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Product category
Human cells
Product type
hTERT-immortalized cell
Homo sapiens, human
Cell type
COFS Cerebro Oculo Facio Skeletal Syndrome
3D cell culture
Drug development
High-throughput screening
Genetic disorder research
Product format
Storage conditions
Vapor phase of liquid nitrogen
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ATCC determines the biosafety level of a material based on our risk assessment as guided by the current edition of Biosafety in Microbiological and Biomedical Laboratories (BMBL), U.S. Department of Health and Human Services. It is your responsibility to understand the hazards associated with the material per your organization’s policies and procedures as well as any other applicable regulations as enforced by your local or national agencies.

Cells contain SV40 sequences

ATCC highly recommends that appropriate personal protective equipment is always used when handling vials. For cultures that require storage in liquid nitrogen, it is important to note that some vials may leak when submersed in liquid nitrogen and will slowly fill with liquid nitrogen. Upon thawing, the conversion of the liquid nitrogen back to its gas phase may result in the vial exploding or blowing off its cap with dangerous force creating flying debris. Unless necessary, ATCC recommends that these cultures be stored in the vapor phase of liquid nitrogen rather than submersed in liquid nitrogen.

Detailed product information


Specific applications
CRL-4005 (TelCOFS02MA) is an hTERT-immortalized skin fibroblast cell line derived from a patient with Cerebro-Oculo-Facio-Skeletal Syndrome.  This cell line carries a homozygous 2bp deletion in the ERCC6/CSB gene ORF, which generates the nonsense codon TGA at amino acid position 1240 and is expected to result in a truncated polypeptide missing the C-terminal 254 amino acids 


Growth properties

This cell line was immortalized by infection with a retroviral vector containing human telomerase cDNA.

This cell line was derived from skin biopsy of a 4-6 years old girl of French/Canadian Aboriginal descent with Cerebro-Oculo-Facio-Skeletal Syndrome.  The patient presented at birth with growth deficiency, microcephaly, and bilateral microphthalmia with cataracts. She failed to thrive and manifested profound developmental deficiency, recurrent pneumonia, and seizures. She had small, deep-set eyes, a prominent nasal root and tip, an overhanging upper lip, and mild micrognathia. Appendicular tone was increased with decreased axial tone, and she developed progressive contractures. Eruption of teeth was delayed until age 4 years, and she was inattentive to visual stimuli. She had no freckling, actinic keratoses, or photosensitivity, and she died at age 6 years

4 to 6 years
Native American
Immortalization method
hTERT expression
TelCOFS02MA is a diploid human cell line of female origin with a modal chromosome number of 46 (46,XX) indicated by cytogenetic analysis on G-banded metaphase cells.
Antigen expression
Positive for Vimentin and PDGFRB (Platelet-derived growth factor receptor, beta polypeptide)
Genes expressed
This cell line carries a homozygous 2bp deletion in the ERCC6/CSB gene ORF, which generates the nonsense codon TGA at amino acid position 1240 and is expected to result in a truncated polypeptide missing the C-terminal 254 amino acids
Expression markers
Positive for PDGFRB (Platelet-derived growth factor receptor, beta polypeptide)
CRL-4005 (TelCOFS02MA) is an hTERT-immortalized skin fibroblast cell line derived from a patient with Cerebro-Oculo-Facio-Skeletal Syndrome.

Handling information

Unpacking and storage instructions
  1. Check all containers for leakage or breakage.
  2. Remove the frozen cells from the dry ice packaging and immediately place the cells at a temperature below ­-130°C, preferably in liquid nitrogen vapor, until ready for use.
Complete medium
The base medium for this cell line is ATCC-formulated Dulbecco's Modified Eagle's Medium, Catalog No. 30-2002. To make the complete growth medium, add the following components to the base medium: fetal bovine serum to a final concentration of 5%.
95% Air, 5% CO2
Seeding density
4.0 x103 to 6.0 x 103 viable cells/cm2
Handling procedure
To ensure the highest level of viability, thaw the vial and initiate the culture as soon as possible upon receipt. If storage of the frozen culture is necessary upon arrival, store the vial in liquid nitrogen vapor phase and NOT at –70°C. Storage at –70°C will result in loss of viability.
  1. Prepare a 25 cm2 or a 75 cm2 culture flask containing the recommended complete culture medium. Prior to the addition of the vial contents, the vessel containing the growth medium should be placed in the incubator for at least 15 minutes to allow the medium to reach its normal pH (7.0 to 7.6) and to avoid excessive alkalinity of the medium during recovery of the cells.
  2. Thaw the vial by gentle agitation in a 37°C water bath. To reduce the possibility of contamination, keep the O-ring and cap out of the water. Thawing should be rapid (approximately 2 minutes).
  3. Remove the vial from the water bath as soon as the contents are thawed, and decontaminate by dipping in or spraying with 70% ethanol. All operations from this point on should be carried out under strict aseptic conditions.
  4. Transfer the vial contents to a centrifuge tube containing 9.0 mL of complete culture medium and centrifuge the cell suspension at approximately 125 x g for 5 to 7 minutes.
  5. Discard the supernatant and resuspend the cells in fresh growth medium. Add this suspension to the prepared culture vessel, seeding the cells at 4 X 103 to 6 X 103 cells/cm2.
  6. Incubate the culture at 37°C in a suitable incubator.
  7. A 5% CO2/95% air atmosphere is recommended if using the medium described on this product sheet.
Subculturing procedure
Volumes used in this protocol are for 75 cm2 flasks; proportionally reduce or increase amount of dissociation solutions for culture vessels of other sizes.
1. Remove and discard spent medium.
2. Briefly rinse the cells with Dulbecco's Phosphate Buffered Saline (DPBS, ATCC 30-2200) and discard rinse solution.
3. Add 2.0 to 3.0 mL room temperature 0.25% Trypsin-EDTA (ATCC 30-2101) to the flask. Incubate at 37°C for 2-3 min (until cells have detached).
4. Neutralize trypsin by adding 5-8 mL of complete growth media.
5. Centrifuge cells at 250 x g for 5 min at room temperature.
6. Remove supernatant. Resuspend pellet in 6.0 to 8.0 mL Complete Growth Medium.
7. Count cells, and seed 4.0 x 10e3 to 6.0 x 10e3 viable cells/cm2 to new culture vessels.
Medium Renewal: Every 2-3 days.

Quality control specifications

STR profiling
Amelogenin: X
CSF1PO: 12
D13S317: 10,12
D16S539: 9,11
D5S818: 7,13
D7S820: 10,12
TH01: 7,9.3
TPOX: 11,12
vWA: 16,17
D3S1358: 16
D21S11: 29,31
D18S51: 12,23
Penta_E: 12,16
Penta_D: 9,12
D8S1179: 14
FGA: 18,20
D19S433: 14,15.2
D2S1338: 19,22


Errol C. Friedberg

Legal disclaimers

Intended use
This product is intended for laboratory research use only. It is not intended for any animal or human therapeutic use, any human or animal consumption, or any diagnostic use.

The product is provided 'AS IS' and the viability of ATCC® products is warranted for 30 days from the date of shipment, provided that the customer has stored and handled the product according to the information included on the product information sheet, website, and Certificate of Analysis. For living cultures, ATCC lists the media formulation and reagents that have been found to be effective for the product. While other unspecified media and reagents may also produce satisfactory results, a change in the ATCC and/or depositor-recommended protocols may affect the recovery, growth, and/or function of the product. If an alternative medium formulation or reagent is used, the ATCC warranty for viability is no longer valid.  Except as expressly set forth herein, no other warranties of any kind are provided, express or implied, including, but not limited to, any implied warranties of merchantability, fitness for a particular purpose, manufacture according to cGMP standards, typicality, safety, accuracy, and/or noninfringement.


This product is intended for laboratory research use only. It is not intended for any animal or human therapeutic use, any human or animal consumption, or any diagnostic use. Any proposed commercial use is prohibited without a license from ATCC.

While ATCC uses reasonable efforts to include accurate and up-to-date information on this product sheet, ATCC makes no warranties or representations as to its accuracy. Citations from scientific literature and patents are provided for informational purposes only. ATCC does not warrant that such information has been confirmed to be accurate or complete and the customer bears the sole responsibility of confirming the accuracy and completeness of any such information.

This product is sent on the condition that the customer is responsible for and assumes all risk and responsibility in connection with the receipt, handling, storage, disposal, and use of the ATCC product including without limitation taking all appropriate safety and handling precautions to minimize health or environmental risk. As a condition of receiving the material, the customer agrees that any activity undertaken with the ATCC product and any progeny or modifications will be conducted in compliance with all applicable laws, regulations, and guidelines. This product is provided 'AS IS' with no representations or warranties whatsoever except as expressly set forth herein and in no event shall ATCC, its parents, subsidiaries, directors, officers, agents, employees, assigns, successors, and affiliates be liable for indirect, special, incidental, or consequential damages of any kind in connection with or arising out of the customer's use of the product. While reasonable effort is made to ensure authenticity and reliability of materials on deposit, ATCC is not liable for damages arising from the misidentification or misrepresentation of such materials.

Please see the material transfer agreement (MTA) for further details regarding the use of this product. The MTA is available at

Permits & Restrictions

Material Transfer Agreement Addendum for Screening Applications

For-profit organizations
For every order of this item, you must provide a signed Material Transfer Agreement Addendum for Screening Applications. We cannot ship this item until we receive this addendum. The person signing the addendum as the principal investigator must match the end user as listed on the applicable sales order for the item.

Email the signed addendum to [email protected] with a reference to both your account and sales order numbers. Once received, your addendum will be reviewed, and this item will be released for shipment if all requirements are met. Additional fees may apply if this product is being used for a screening use (ATCC ACS-2103F), and these fees will be applied after your order is confirmed. If you need assistance with your order, please contact our Customer Care team or your applicable distributor.

Import Permit for the State of Hawaii

If shipping to the U.S. state of Hawaii, you must provide either an import permit or documentation stating that an import permit is not required. We cannot ship this item until we receive this documentation. Contact the Hawaii Department of Agriculture (HDOA), Plant Industry Division, Plant Quarantine Branch to determine if an import permit is required.



Curated Citations

Meira LB, et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66: 1221-1228, 2000. PubMed: 10739753

Frequently Asked Questions

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