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Cellosaurus GM04395 (CVCL_GS64)

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Cell line name GM04395
Accession CVCL_GS64
Resource Identification Initiative To cite this cell line use: GM04395 (RRID:CVCL_GS64)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Leu107Pro (c.320T>C); ClinVar=VCV000001965; Zygosity=Heterozygous (Coriell=GM04395).
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Arg211Cys (c.631C>T); ClinVar=VCV000001966; Zygosity=Heterozygous (Coriell=GM04395).
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_GS65 ! GM04396
Sex of cell Male
Age at sampling 6M
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; GM04395
Cell line databases/resources CLO; CLO_0019703
Encyclopedic resources Wikidata; Q54838512
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number15