ID   GM01795
AC   CVCL_1D26
SY   GM-1795; GM01795A
DR   CLO; CLO_0031023
DR   BioSample; SAMN00807181
DR   Coriell; GM01795
DR   Wikidata; Q54837084
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Arg611His (c.1832G>A); ClinVar=VCV000045442; Zygosity=Heterozygous (from autologous cell line GM01610).
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Trp648Ter (c.1944G>A); ClinVar=VCV000004511; Zygosity=Heterozygous (from autologous cell line GM01610).
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Gly695Val (c.2084G>T); ClinVar=VCV000004510; Zygosity=Heterozygous (from autologous cell line GM01610).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1D23 ! GM01610
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//