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Cellosaurus GM10903 (CVCL_F146)

[Text version]
Cell line name GM10903
Accession CVCL_F146
Resource Identification Initiative To cite this cell line use: GM10903 (RRID:CVCL_F146)
Comments Population: Mexican.
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.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (PubMed=10767341).
Disease De Sanctis-Cacchione syndrome (NCIt: C84666)
De Sanctis-Cacchione syndrome (ORDO: Orphanet_1569)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_L643 (CSB-iPSC clone 1)CVCL_L644 (CSB-iPSC clone 2)CVCL_L645 (CSB-iPSC clone 3)
Originate from same individual CVCL_7504 ! GM10902
Sex of cell Female
Age at sampling 9Y
Category Finite cell line
STR profile Source(s): PubMed=10767341

Markers:
AmelogeninX
D21S1131.2,32.2
FGA23,26
TH017,8
vWA18,19

Run an STR similarity search on this cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=10767341; DOI=10.1093/hmg/9.8.1171
Colella S., Nardo T., Botta E., Lehmann A.R., Stefanini M.
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum.
Hum. Mol. Genet. 9:1171-1175(2000)

PubMed=22661500; DOI=10.1093/hmg/dds211; PMCID=PMC3412382
de Sousa Andrade L.N., Nathanson J.L., Yeo G.W., Menck C.F.M., Muotri A.R.
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.
Hum. Mol. Genet. 21:3825-3834(2012)

Cross-references
Cell line collections (Providers) Coriell; GM10903
Cell line databases/resources CLO; CLO_0023395
Biological sample resources BioSample; SAMN00800324
Encyclopedic resources Wikidata; Q54844725
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number17