ID   GM10267
AC   CVCL_9X15
DR   CLO; CLO_0029186
DR   BioSample; SAMN00799867
DR   Coriell; GM10267
DR   Wikidata; Q54844335
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 6091; INSR; Simple; p.Ala2Gly (c.5C>G); ClinVar=VCV000193063; Zygosity=Homozygous (from autologous cell line GM10277).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84676; Donohue syndrome
DI   ORDO; Orphanet_508; Leprechaunism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_9X16 ! GM10277
SX   Female
AG   15Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; 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).
//