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Cellosaurus TelCOFS03MA (CVCL_U607)

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Cell line name TelCOFS03MA
Accession CVCL_U607
Resource Identification Initiative To cite this cell line use: TelCOFS03MA (RRID:CVCL_U607)
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 Male
Age at sampling <11Y
Category Telomerase immortalized cell line
STR profile Source(s): ATCC=CRL-4006

Markers:
AmelogeninX,Y
CSF1PO10
D5S81811
D7S82010,12
D13S3179,10
D16S53910,11
TH017
TPOX8,12
vWA17

Run an STR similarity search on this cell line
Publications

PubMed=10739753; DOI=10.1086/302867; PMCID=PMC1288189
Lisiane B. Meira, John M. Graham Jr., Cheryl Rockman-Greenberg, David B. Busch, Ana T.B. Doughty, Deborah W. Ziffer, Donna M. Coleman, Isabelle Savre-Train, Errol Clive Friedberg;
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-4006 - Discontinued
Biological sample resources BioSample; SAMN03471717
Encyclopedic resources Wikidata; Q54972054
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number17