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Cellosaurus MUi031-A (CVCL_B6PN)

[Text version]
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 sampling site: Peripheral blood.
Sequence variations
  • Mutation; 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

PubMed=35151019; DOI=10.1016/j.scr.2022.102698
Pornsukjantra T., Kangboonruang K., Tong-Ngam P., Tim-Aroon T., Wattanasirichaigoon D., Anurathapan U., Hongeng S., Tubsuwan A., Bhukhai K., Asavapanumas N.
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 creation17-Mar-2022
Last entry update21-Mar-2023
Version number4