ID   JUCGRMi004-A
AC   CVCL_D0GU
SY   CMTA6
DR   BioSamples; SAMEA113971000
DR   hPSCreg; JUCGRMi004-A
DR   Wikidata; Q123032772
RX   PubMed=38537501;
CC   From: Center for Genomic and Regenerative Medicine, Juntendo University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Gene amplification; HGNC; 9118; PMP22; Duplication; Zygosity=Heterozygous (PubMed=38537501).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75468; Charcot-Marie-Tooth disease type 1A
DI   ORDO; Orphanet_101081; Charcot-Marie-Tooth disease type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=38537501; DOI=10.1016/j.scr.2024.103401;
RA   Liu X., Ishikawa K.-i., Hattori N., Akamatsu W.;
RT   "Generation of one induced pluripotent stem cell line JUCGRMi004-A
RT   from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22
RT   duplication.";
RL   Stem Cell Res. 77:103401-103401(2024).
//