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Cellosaurus TelCOFS02MA (CVCL_U606)

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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

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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-4005
Biological sample resources BioSample; SAMN03471716
Encyclopedic resources Wikidata; Q54972052
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number18