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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.
Transfected with: HGNC; 11730; TERT.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; 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

Markers:
AmelogeninX
CSF1PO12
D5S8187,13
D7S82010,12
D13S31710,12
D16S5399,11
TH017,9.3
TPOX11,12
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=10739753; DOI=10.1086/302867
Meira L.B., Graham J.M. Jr., Greenberg C.R., 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 update05-Oct-2023
Version number15