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Cellosaurus GM01617 (CVCL_IN55)

[Text version]
Cell line name GM01617
Synonyms GM-1617
Accession CVCL_IN55
Resource Identification Initiative To cite this cell line use: GM01617 (RRID:CVCL_IN55)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 6176; ITPA; Simple; p.Pro32Thr (c.94C>A); ClinVar=VCV000014746; Zygosity=Homozygous (Coriell=GM01617).
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_IN47 ! GM01619
Sex of cell Female
Age at sampling 29Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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)

Cross-references
Cell line collections (Providers) Coriell; GM01617
Cell line databases/resources CLO; CLO_0031561
Anatomy/cell type resources BTO; BTO:0006472
Biological sample resources BioSample; SAMN00806975
Encyclopedic resources Wikidata; Q54836950
Entry history
Entry creation01-Dec-2016
Last entry update30-Jan-2024
Version number13