Karyotype
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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
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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
Ref 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
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Clinical Data
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Female
4-6 years old
French/Canadian Aboriginal descent
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Antigen Expression
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Positive for Vimentin and PDGFRB (Platelet-derived growth factor receptor, beta polypeptide)
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Receptor Expression
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Positive for PDGFRB (Platelet-derived growth factor receptor, beta polypeptide)
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Genes Expressed
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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)
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Comments
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CRL-4005 (TelCOFS02MA) is an hTERT-immortalized skin fibroblast cell line derived from a patient with Cerebro-Oculo-Facio-Skeletal Syndrome.
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