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Cellosaurus GM23232 (CVCL_F191)

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Cell line name GM23232
Synonyms GM23232*A
Accession CVCL_F191
Resource Identification Initiative To cite this cell line use: GM23232 (RRID:CVCL_F191)
Comments Population: Caucasian.
Omics: Variations; CNV analysis.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (Coriell=GM23232).
  • Mutation; HGNC; HGNC:186; ADA; Simple; c.1050_1054delGAAGA; Zygosity=Heterozygous (Coriell=GM23232).
Disease Adenosine deaminase deficiency (NCIt: C3962)
Severe combined immunodeficiency due to adenosine deaminase deficiency (ORDO: Orphanet_277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_8517 (GM01390)
Sex of cell Male
Age at sampling 3M
Category Induced pluripotent stem cell
Publications

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine H. Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Christman, Norman P. Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)

Cross-references
Cell line collections (Providers) Coriell; GM23232
Cell line databases/resources SKIP; SKIP000184
SKIP; SKIP004348
Biological sample resources BioSample; SAMN00806683
Encyclopedic resources Wikidata; Q54852925
Entry history
Entry creation22-Oct-2012
Last entry update10-Apr-2025
Version number24