ID   MUi027-A
AC   CVCL_A6JA
SY   MU013.C2
DR   BioSamples; SAMEA13864634
DR   hPSCreg; MUi027-A
DR   Wikidata; Q107116450
RX   PubMed=35629189;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; c.7946_7947delCT; Zygosity=Heterozygous (PubMed=35629189).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=35629189; DOI=10.3390/jpm12050766; PMCID=PMC9145395;
RA   Linn A.K., Maneepitasut W., Tubsuwan A., Kitiyanant N.,
RA   Phakdeekitcharoen B., Borwornpinyo S., Hongeng S., Phanthong P.;
RT   "Establishment and characterization of MUi027-A: a novel
RT   patient-derived cell line of polycystic kidney disease with PKD1
RT   mutation.";
RL   J. Pers. Med. 12:766.1-766.10(2022).
//