ID   GM11292
AC   CVCL_AM55
DR   CLO; CLO_0026003
DR   Coriell; GM11292
DR   Wikidata; Q54844971
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple; p.Thr373Lys (c.1118C>A); ClinVar=VCV000003774; Zygosity=Heterozygous (Coriell=GM11292).
CC   Sequence variation: Mutation; HGNC; 12442; TYR; Simple; p.Asn382Lys (c.1146C>A); ClinVar=VCV000003786; Zygosity=Heterozygous (Coriell=GM11292).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168731; Oculocutaneous albinism type 1A
DI   ORDO; Orphanet_79431; Oculocutaneous albinism type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 02-05-16; 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).
//