ID   MUi030-A
AC   CVCL_B6PQ
SY   Gaucher iPSC2; GD022
DR   BioSamples; SAMEA114192171
DR   hPSCreg; MUi030-A
DR   Wikidata; Q112129368
RX   PubMed=37890332;
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=37890332).
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   9Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=37890332; DOI=10.1016/j.scr.2023.103229;
RA   Kangboonruang K., Pornsukjantra T., Tong-Ngam P., Chokpanuwat T.,
RA   Tim-Aroon T., Wattanasirichaigoon D., Anurathapan U., Hongeng S.,
RA   Asavapanumas N., Bhukhai K., Tubsuwan A.;
RT   "Establishment of MUi030-A: a human induced pluripotent stem cell line
RT   carrying homozygous L444P mutation in the GBA1 gene to study type-3
RT   Gaucher disease.";
RL   Stem Cell Res. 73:103229-103229(2023).
//