ID   KMUGMCi007-A
AC   CVCL_D0H6
SY   KMUGMCi007PEPD; KN649
DR   BioSamples; SAMEA112292913
DR   hPSCreg; KMUGMCi007-A
DR   Wikidata; Q123032831
RX   PubMed=37023562;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:8840; PEPD; Simple; p.Phe71del (c.207CTT[1]) (c.210_212delCTT); ClinVar=VCV001430020; Zygosity=Homozygous (PubMed=37023562).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85029; Prolidase deficiency
DI   ORDO; Orphanet_742; Prolidase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37023562; DOI=10.1016/j.scr.2023.103075;
RA   Ura, Hiroki
RA   Togi, Sumihito
RA   Ozaki, Mamoru
RA   Hatanaka, Hisayo
RA   Niida, Yo
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing
RT   homozygous in-frame mutation in the PEPD gene.";
RL   Stem Cell Res. 69:103075-103075(2023).
//