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Cellosaurus MUi030-A (CVCL_B6PQ)

[Text version]
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; 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

PubMed=37890332; DOI=10.1016/j.scr.2023.103229
Kangboonruang K., Pornsukjantra T., Tong-Ngam P., Chokpanuwat T., Tim-Aroon T., Wattanasirichaigoon D., Anurathapan U., Hongeng S., Asavapanumas N., Bhukhai K., Tubsuwan A.
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 creation17-Mar-2022
Last entry update30-Jan-2024
Version number5