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Cellosaurus GM06201 (CVCL_N049)

[Text version]
Cell line name GM06201
Synonyms GM 6201; GM06201A; GM17161
Accession CVCL_N049
Resource Identification Initiative To cite this cell line use: GM06201 (RRID:CVCL_N049)
Comments Part of: Human variation panel.
Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: DNA methylation analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 186; ADA; Simple; p.Arg76Trp (c.226C>T); ClinVar=VCV000001962; Zygosity=Heterozygous (Coriell=GM06201).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
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)

PubMed=16260726; DOI=10.1073/pnas.0508390102; PMCID=PMC1283473
Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E., Bond G., Levine A.J.
Detection of functional single-nucleotide polymorphisms that affect apoptosis.
Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005)

Cross-references
Cell line collections (Providers) Coriell; GM06201
Coriell; GM17161
Cell line databases/resources CLO; CLO_0013982
CLO; CLO_0023140
Encyclopedic resources Wikidata; Q54842218
Gene expression databases GEO; GSM273428
GEO; GSM569688
GEO; GSM596226
GEO; GSM597061
GEO; GSM924671
Entry history
Entry creation05-Nov-2013
Last entry update30-Jan-2024
Version number19