Cellosaurus logo
expasy logo

Cellosaurus TelCOFS02MA (CVCL_U606)

[Text version]
Cell line name TelCOFS02MA
Accession CVCL_U606
Resource Identification Initiative To cite this cell line use: TelCOFS02MA (RRID:CVCL_U606)
Comments Population: Native American; Saulteaux.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys1239Glufs*1; Zygosity=Homozygous (PubMed=10739753).
Disease Cerebrooculofacioskeletal syndrome 1 (NCIt: C173085)
COFS syndrome (ORDO: Orphanet_1466)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4-6Y
Category Telomerase immortalized cell line
STR profile Source(s): ATCC=CRL-4005

Markers:
AmelogeninX
CSF1PO12
D2S133819,22
D3S135816
D5S8187,13
D7S82010,12
D8S117914
D13S31710,12
D16S5399,11
D18S5112,23
D19S43314,15.2
D21S1129,31
FGA18,20
Penta D9,12
Penta E12,16
TH017,9.3
TPOX11,12
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=10739753; DOI=10.1086/302867; PMCID=PMC1288189
Meira L.B., Graham J.M. Jr., Rockman-Greenberg C., Busch D.B., Doughty A.T.B., Ziffer D.W., Coleman D.M., Savre-Train I., Friedberg E.C.
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)

Cross-references
Cell line collections (Providers) ATCC; CRL-4005
Biological sample resources BioSample; SAMN03471716
Encyclopedic resources Wikidata; Q54972052
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number18