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Cellosaurus GM02436 (CVCL_GS56)

[Text version]
Cell line name GM02436
Synonyms GM-2436; GM 2436
Accession CVCL_GS56
Resource Identification Initiative To cite this cell line use: GM02436 (RRID:CVCL_GS56)
Comments Population: Caucasian; Swiss.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
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)
Sex of cell Female
Age at sampling Children
Category Finite cell line
Publications

PubMed=7380831; DOI=10.1016/S0021-9258(19)70683-8
Peter E. Daddona, Michael A. Frohman, William Nimmons Kelley;
Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains.
J. Biol. Chem. 255:5681-5687(1980)

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

PubMed=1680289; PMCID=PMC1683191
Rochelle Hirschhorn, Vijay Chakravarti, Jennifer M. Puck, Steven D. Douglas;
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
Am. J. Hum. Genet. 49:878-885(1991)

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)

PubMed=1346349; DOI=10.1002/ajmg.1320420213
Rochelle Hirschhorn, Amy Ellenbogen, Stephanie Tzall;
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA- patients with severe combined immunodeficiency (ADA- SCID).
Am. J. Med. Genet. 42:201-207(1992)

Cross-references
Cell line collections (Providers) Coriell; GM02436
Cell line databases/resources CLO; CLO_0033293
Biological sample resources BioSample; SAMN00807775
Encyclopedic resources Wikidata; Q54837488
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number15