ID   GM01619
AC   CVCL_IN47
SY   GM-1619
DR   CLO; CLO_0031563
DR   BioSample; SAMN00806977
DR   Coriell; GM01619
DR   Wikidata; Q54836951
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6176; ITPA; Simple; p.Pro32Thr (c.94C>A); ClinVar=VCV000014746; Zygosity=Homozygous (Coriell=GM01619).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129974; Inosine triphosphatase deficiency
DI   ORDO; Orphanet_457375; ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_IN55 ! GM01617
SX   Female
AG   29Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 30-01-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//