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Cellosaurus GM10904 (CVCL_F149)

[Text version]
Cell line name GM10904
Accession CVCL_F149
Resource Identification Initiative To cite this cell line use: GM10904 (RRID:CVCL_F149)
Comments Population: Mexican.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (Coriell=GM10904).
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_F150 ! GM10905
Sex of cell Male
Age at sampling 10Y
Category Transformed 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)

Cross-references
Cell line collections (Providers) Coriell; GM10904
Cell line databases/resources CLO; CLO_0023396
Biological sample resources BioSample; SAMN00800326
Encyclopedic resources Wikidata; Q54844726
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number17