ID   MUi026-A
AC   CVCL_A6IZ
SY   MU012.C4; S1C4
DR   BioSamples; SAMEA13819041
DR   hPSCreg; MUi026-A
DR   Wikidata; Q107116448
RX   PubMed=33799277;
RX   PubMed=35629189;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 9008; PKD1; Simple; p.Gln1960Ter (c.5878C>T); ClinVar=VCV000562298; Zygosity=Heterozygous (PubMed=33799277).
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   73Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 7
//
RX   PubMed=33799277; DOI=10.1016/j.scr.2021.102306;
RA   Maneepitasut W., Wongkummool W., Tong-Ngam P., Promthep K.,
RA   Tubsuwan A., Khine Linn A., Phakdeekitcharoen B., Borwornpinyo S.,
RA   Kitiyanant N., Phanthong P., Hongeng S.;
RT   "Generation of human induced pluripotent stem cell line (MUi026-A)
RT   from a patient with autosomal dominant polycystic kidney disease
RT   carrying PKD1 point mutation.";
RL   Stem Cell Res. 53:102306-102306(2021).
//
RX   PubMed=35629189; DOI=10.3390/jpm12050766;
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).
//