Cellosaurus cell line MUi031-A (CVCL

Cross-references
Cell line name	MUi031-A
Synonyms	Gaucher iPSC3
Accession	CVCL_B6PN
Resource Identification Initiative	To cite this cell line use: MUi031-A (RRID:CVCL_B6PN)
Comments	From: Mahidol University; Bangkok; Thailand. Population: Southeast Asian; Thai. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=35151019).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=35151019; DOI=10.1016/j.scr.2022.102698 Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas; A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene. Stem Cell Res. 60:102698-102698(2022)
Cell line databases/resources	hPSCreg; MUi031-A
Biological sample resources	BioSamples; SAMEA12366396
Encyclopedic resources	Wikidata; Q112129369
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	6