Cellosaurus cell line MUi030-A (CVCL

Cross-references
Cell line name	MUi030-A
Synonyms	Gaucher iPSC2; GD022
Accession	CVCL_B6PQ
Resource Identification Initiative	To cite this cell line use: MUi030-A (RRID:CVCL_B6PQ)
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=37890332).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=37890332; DOI=10.1016/j.scr.2023.103229 Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwan; Establishment of MUi030-A: a human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease. Stem Cell Res. 73:103229-103229(2023)
Cell line databases/resources	hPSCreg; MUi030-A
Biological sample resources	BioSamples; SAMEA114192171
Encyclopedic resources	Wikidata; Q112129368
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	6