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Cellosaurus GM01619 (CVCL_IN47)

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Cell line name GM01619
Synonyms GM-1619
Accession CVCL_IN47
Resource Identification Initiative To cite this cell line use: GM01619 (RRID:CVCL_IN47)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6176; ITPA; Simple; p.Pro32Thr (c.94C>A); ClinVar=VCV000014746; Zygosity=Homozygous (Coriell=GM01619).
Disease Inosine triphosphatase deficiency (NCIt: C129974)
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement (ORDO: Orphanet_457375)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_IN55 ! GM01617
Sex of cell Female
Age at sampling 29Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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)

Cross-references
Cell line collections (Providers) Coriell; GM01619
Cell line databases/resources CLO; CLO_0031563
Biological sample resources BioSample; SAMN00806977
Encyclopedic resources Wikidata; Q54836951
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number14