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Cellosaurus GM03137 (CVCL_GS61)

[Text version]
Cell line name GM03137
Synonyms GM 3137
Accession CVCL_GS61
Resource Identification Initiative To cite this cell line use: GM03137 (RRID:CVCL_GS61)
Comments Karyotypic information: 46,XX,t(1;12)(1qter->1p36::12q15->12qter;12pter->12q15::1p36->1pter) [24]; 46,XX [26] (Coriell=GM03137).
Cell type: Fibroblast; CL=CL_0000057.
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 Age unspecified
Category Finite cell line
Publications

PubMed=2567118
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)

PubMed=1680289
Hirschhorn R., Chakravarti V., Puck J., Douglas S.D.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=1346349; DOI=10.1002/ajmg.1320420213
Hirschhorn R., Ellenbogen A., Tzall S.
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; GM03137
Cell line databases/resources CLO; CLO_0013521
Encyclopedic resources Wikidata; Q54837897
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number9