ID   CMCi001-A
AC   CVCL_ZX45
SY   CMC-KIN-hiPSCs; KMC-KIN-hiPSCs; KMC-KIN-hiPSC
DR   BioSamples; SAMEA7807652
DR   hPSCreg; CMCi001-A
DR   SKIP; SKIP005764
DR   Wikidata; Q102113693
RX   PubMed=32563974;
CC   From: The Catholic University of Korea; Seoul; South Korea.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 29170; FAN1; Simple; p.Gly663Ilefs*54 (c.1985_1994del10); Zygosity=Homozygous (PubMed=32563974).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173626; Karyomegalic interstitial nephritis
DI   ORDO; Orphanet_401996; Karyomegalic interstitial nephritis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32563974; DOI=10.1016/j.scr.2020.101876;
RA   Na D.H., Lim S.W., Kim B.-M., Kim K.W., Shin Y.J., Chae H., Ko E.J.,
RA   Yang C.W., Kim M., Chung B.H.;
RT   "Generation of a human induced pluripotent stem cell line (CMCi001-A)
RT   from a patient with karyomegalic interstitial nephritis with
RT   homozygous frameshift deletion mutation c.1985_1994del10 of the
RT   FANCD2/FANCI-associated nuclease 1 gene.";
RL   Stem Cell Res. 46:101876-101876(2020).
//