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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 
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 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)
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
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
