ID   MUi031-A
AC   CVCL_B6PN
SY   Gaucher iPSC3
DR   BioSamples; SAMEA12366396
DR   hPSCreg; MUi031-A
DR   Wikidata; Q112129369
RX   PubMed=35151019;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=35151019).
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   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35151019; DOI=10.1016/j.scr.2022.102698;
RA   Pornsukjantra T., Kangboonruang K., Tong-Ngam P., Tim-Aroon T.,
RA   Wattanasirichaigoon D., Anurathapan U., Hongeng S., Tubsuwan A.,
RA   Bhukhai K., Asavapanumas N.;
RT   "A generation of human induced pluripotent stem cell line (MUi031-A)
RT   from a type-3 Gaucher disease patient carrying homozygous mutation on
RT   GBA1 gene.";
RL   Stem Cell Res. 60:102698-102698(2022).
//