| Cell line name |
GM02471 |
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| Synonyms |
GM 2471; GM02471A |
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| Accession |
CVCL_GS58 |
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| Resource Identification Initiative |
To cite this cell line use: GM02471 (RRID:CVCL_GS58) |
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| Comments |
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; 186; ADA; Simple; p.Arg156Cys (c.466C>T); ClinVar=VCV000001970; Zygosity=Heterozygous (Coriell=GM02471).
- Mutation; HGNC; 186; ADA; Simple; p.Leu304Arg (c.911T>G); ClinVar=VCV000001958; Zygosity=Heterozygous (PubMed=1346349).
|
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| Disease |
Adenosine deaminase deficiency (NCIt: C3962)
Severe combined immunodeficiency due to adenosine deaminase deficiency (ORDO: Orphanet_277) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_GS55 ! GM02434 |
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| Sex of cell |
Male |
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| Age at sampling |
7M |
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| Category |
Transformed cell line |
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| 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM02471
|
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| Cell line databases/resources |
CLO; CLO_0033191
|
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| Encyclopedic resources |
Wikidata; Q54837508
|
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| Entry history |
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| Entry creation | 26-Sep-2016 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 17 |
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