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TelCOFS02MA (ATCC® CRL-4005™)

Organism: Homo sapiens, human  /  Cell Type: Fibroblast  /  Tissue: Skin  /  Disease: COFS (Cerebro-Oculo-Facio-Skeletal Syndrome)

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Organism Homo sapiens, human
Tissue Skin
Cell Type Fibroblast
Product Format frozen
Morphology fibroblast
Culture Properties Adherent
Biosafety Level 2 [Cells contain SV40 viral DNA sequences]

Biosafety classification is based on U.S. Public Health Service Guidelines, it is the responsibility of the customer to ensure that their facilities comply with biosafety regulations for their own country.
Disease COFS (Cerebro-Oculo-Facio-Skeletal Syndrome)
Age 4 to 6 years
Gender Female
Ethnicity French/Canadian Aboriginal descent
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  RefMeira 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
Shipping Information Frozen
Storage Conditions Liquid nitrogen vapor phase
Karyotype 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.
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Derivation

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

RefMeira 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
Clinical Data
Female
4-6 years old
French/Canadian Aboriginal descent
Antigen Expression Positive for Vimentin and PDGFRB (Platelet-derived growth factor receptor, beta polypeptide)
Receptor Expression Positive for 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 (Meira L, 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. 2000 Apr;66(4):1221-8. PubMed: 10739753)
Comments CRL-4005 (TelCOFS02MA) is an hTERT-immortalized skin fibroblast cell line derived from a patient with Cerebro-Oculo-Facio-Skeletal Syndrome.
Complete Growth 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%.
Seeding Density 4000-6000 cells/cm2
Subculturing 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.
Culture Conditions Atmosphere: air, 95%; carbon dioxide (CO2), 5% Temperature: 37°C
STR Profile

D5S818: 7, 13         
D13S317: 10, 12
D7S820: 10, 12        
D16S539: 9, 11
vWA:  16, 17        
Amelogenin:  X   
TPOX: 11, 12
CSF1PO: 12
TH01: 7, 9.3
Name of Depositor Errol C. Friedberg
References

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

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

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

Notice: Necessary PermitsPermits

These permits may be required for shipping this product:

  • Customers located in the state of Hawaii will need to contact the Hawaii Department of Agriculture to determine if an Import Permit is required. A copy of the permit or documentation that a permit is not required must be sent to ATCC in advance of shipment.
Basic Documentation
Product Sheet
Product Sheet
Certificate of Analysis
Certificate of Analysis
SDS
SDS
Other Documentation
Other Document
CRL-4005 confluency
Restrictions

For commercial accounts, this cell line is only distributed under the terms of a fully signed and executed ATCC® Material Transfer Agreement and Addendum. If the commercial account is screening per completed Addendum, the recipient will be required to pay a Screening Fee (ATCC® ACS-2103™) of $4000.00.

Screening Use is defined as use of Biological Material in small molecule and biologic drug discovery, including initial target identification and validation, assay development, high throughput screening, hit identification, lead optimization, and selection of candidates for clinical development.

If the commercial account is not screening per the completed Addendum, the recipient will not be required to pay a Screening Fee.
References

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

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

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