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Cellosaurus GM03043 (CVCL_D865)

[Text version]
Cell line name GM03043
Synonyms GM-3043; GM 3043; GM17345
Accession CVCL_D865
Resource Identification Initiative To cite this cell line use: GM03043 (RRID:CVCL_D865)
Comments Part of: Human variation panel.
Population: African; !Kung.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 186; ADA; Simple; p.Thr233Ile (c.698C>T); ClinVar=VCV000001980; Zygosity=Homozygous (Coriell=GM03043).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D866 ! GM03029
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

PubMed=2567118; PMCID=PMC1715668
Tzall S., Ellenbogen A., Eng F., Hirschhorn R.
Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
Am. J. Hum. Genet. 44:864-875(1989)

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; GM03043
Coriell; GM17345
Cell line databases/resources CLO; CLO_0012623
CLO; CLO_0013738
Biological sample resources BioSample; SAMN00808223
Encyclopedic resources Wikidata; Q54837833
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number20