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Cellosaurus GM10905 (CVCL_F150)

[Text version]
Cell line name GM10905
Accession CVCL_F150
Resource Identification Initiative To cite this cell line use: GM10905 (RRID:CVCL_F150)
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)
Originate from same individual CVCL_F149 ! GM10904
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
STR profile Source(s): PubMed=10767341

Markers:
AmelogeninX,Y
D21S1130,32.2
FGA23,26
TH017,8
vWA15,18

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=7565859; DOI=10.1016/0921-8777(95)00015-C
Volpe J.P.G., Cleaver J.E.
Xeroderma pigmentosum variant cells are resistant to immortalization.
Mutat. Res. 337:111-117(1995)

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=10771487; DOI=10.1046/j.1523-1747.2000.00952.x
Itoh T., Linn S.M., Ono T., Yamaizumi M.
Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.
J. Invest. Dermatol. 114:1022-1029(2000)

Cross-references
Cell line collections (Providers) Coriell; GM10905
Cell line databases/resources CLO; CLO_0023393
Biological sample resources BioSample; SAMN00800328
Encyclopedic resources Wikidata; Q54844727
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number15