Cellosaurus cell line MUi010-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; MUi010-A
Biological sample resources	BioSamples; SAMEA104494770
Encyclopedic resources	Wikidata; Q54907062
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	11