ID   BRCi021-A
AC   CVCL_B7ES
SY   hiPSC-TUH001; TUH1
DR   BioSamples; SAMEA13409766
DR   hPSCreg; BRCi021-A
DR   Wikidata; Q112929346
RX   PubMed=35500377;
CC   From: RIKEN BioResource Research Center; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Tyr267Ter (c.801T>A); Zygosity=Heterozygous (PubMed=35500377).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165596; Dilated cardiomyopathy-1A
DI   ORDO; Orphanet_300751; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=35500377; DOI=10.1016/j.scr.2022.102793;
RA   Shimoda, Yuzuno
RA   Murakoshi, Nobuyuki
RA   Mori, Haruka
RA   Xu, Dong-Zhu
RA   Tajiri, Kazuko
RA   Hemmi, Yasuko
RA   Sato, Iori
RA   Noguchi, Michiya
RA   Nakamura, Yukio
RA   Hayashi, Yohei
RA   Ieda, Masaki
RT   "Generation of a human induced pluripotent stem cell line derived from
RT   a patient with dilated cardiomyopathy carrying LMNA nonsense
RT   mutation.";
RL   Stem Cell Res. 62:102793-102793(2022).
//