ID   Tyr3
AC   CVCL_D3BJ
DR   Wikidata; Q127384417
WW   Provider; CReM; 680; https://stemcellbank.bu.edu/Catalog/Item/Details/680
CC   From: Center for Regenerative Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12442; TYR; Simple; p.Gly47Asp (c.140G>A); ClinVar=VCV000003794; Zygosity=Heterozygous (Boston University).
CC   Sequence variation: Mutation; HGNC; HGNC:12442; TYR; Simple; p.Thr373Lys (c.1118C>A); ClinVar=VCV000003774; Zygosity=Heterozygous (Boston University).
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)
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-04-25; Version: 4
//