ID   TelCOFS02MA
AC   CVCL_U606
DR   ATCC; CRL-4005
DR   BioSample; SAMN03471716
DR   Wikidata; Q54972052
RX   PubMed=10739753;
CC   Population: Native American; Saulteaux.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys1239Glufs*1; Zygosity=Homozygous (PubMed=10739753).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): ATCC=CRL-4005
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 10,12
ST   D16S539: 9,11
ST   D18S51: 12,23
ST   D19S433: 14,15.2
ST   D21S11: 29,31
ST   D2S1338: 19,22
ST   D3S1358: 16
ST   D5S818: 7,13
ST   D7S820: 10,12
ST   D8S1179: 14
ST   FGA: 18,20
ST   Penta D: 9,12
ST   Penta E: 12,16
ST   TH01: 7,9.3
ST   TPOX: 11,12
ST   vWA: 16,17
DI   NCIt; C173085; Cerebrooculofacioskeletal syndrome 1
DI   ORDO; Orphanet_1466; COFS syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4-6Y
CA   Telomerase immortalized cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 18
//
RX   PubMed=10739753; DOI=10.1086/302867; PMCID=PMC1288189;
RA   Meira L.B., Graham J.M. Jr., Rockman-Greenberg C., Busch D.B.,
RA   Doughty A.T.B., Ziffer D.W., Coleman D.M., Savre-Train I.,
RA   Friedberg E.C.;
RT   "Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal
RT   syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.";
RL   Am. J. Hum. Genet. 66:1221-1228(2000).
//