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Cellosaurus GM01997 (CVCL_CZ12)

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Cell line name GM01997
Synonyms GM-1997
Accession CVCL_CZ12
Resource Identification Initiative To cite this cell line use: GM01997 (RRID:CVCL_CZ12)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Ala215Thr (c.643G>A); ClinVar=VCV000001967; Zygosity=Homozygous (Coriell=GM01997).
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)
Originate from same individual CVCL_CZ84 ! GM02294
Sex of cell Male
Age at sampling 4M
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM01997
Cell line databases/resources CLO; CLO_0032285
Biological sample resources BioSample; SAMN00807364
Encyclopedic resources Wikidata; Q54837222
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14