Cellosaurus logo
expasy logo

Cellosaurus MUi010-A (CVCL_VE99)

[Text version]
Cell line name MUi010-A
Synonyms MYH9
Accession CVCL_VE99
Resource Identification Initiative To cite this cell line use: MUi010-A (RRID:CVCL_VE99)
Comments From: Mahidol University; Bangkok; Thailand.
Population: Southeast Asian; Thai.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7579; MYH9; Simple; p.Arg702Cys (c.2104C>T); ClinVar=VCV000014078; Zygosity=Heterozygous (PubMed=30798146).
Disease Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (NCIt: C158788)
MYH9-related disease (ORDO: Orphanet_182050)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2-3Y
Category Induced pluripotent stem cell
Publications

PubMed=30798146; DOI=10.1016/j.scr.2019.101397
Tangprasittipap A., Jittorntrum B., Kadegasem P., Sasanakul W., Sirachainan N., Kitiyanant N., Hongeng S.
Generation of a human induced pluripotent stem cell line (MUi010-A) from skin fibroblast of patient carrying a c.2104C>T mutation in MYH9 gene.
Stem Cell Res. 36:101397-101397(2019)

Cross-references
Cell line databases/resources hPSCreg; MUi010-A
Biological sample resources BioSamples; SAMEA104494770
Encyclopedic resources Wikidata; Q54907062
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number10