ID   MUi010-A
AC   CVCL_VE99
SY   MYH9
DR   BioSamples; SAMEA104494770
DR   hPSCreg; MUi010-A
DR   Wikidata; Q54907062
RX   PubMed=30798146;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 7579; MYH9; Simple; p.Arg702Cys (c.2104C>T); ClinVar=VCV000014078; Zygosity=Heterozygous (PubMed=30798146).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C158788; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
DI   ORDO; Orphanet_182050; MYH9-related disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2-3Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 10
//
RX   PubMed=30798146; DOI=10.1016/j.scr.2019.101397;
RA   Tangprasittipap A., Jittorntrum B., Kadegasem P., Sasanakul W.,
RA   Sirachainan N., Kitiyanant N., Hongeng S.;
RT   "Generation of a human induced pluripotent stem cell line (MUi010-A)
RT   from skin fibroblast of patient carrying a c.2104C>T mutation in MYH9
RT   gene.";
RL   Stem Cell Res. 36:101397-101397(2019).
//