ID   PNUSCRi003-A
AC   CVCL_C7TV
SY   GBA Gaucher iPSC1
DR   BioSamples; SAMEA112283524
DR   hPSCreg; PNUSCRi003-A
DR   Wikidata; Q117704781
CC   From: Convergence Stem Cell Research Center, Pusan National University; Yangsan; South Korea.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg87Cys (c.259C>T); ClinVar=VCV000004321; Zygosity=Unspecified (hPSCreg=PNUSCRi003-A).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Gln (c.887G>A) (R247Q); ClinVar=VCV000004328; Zygosity=Unspecified (hPSCreg=PNUSCRi003-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40-44Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//