ID   KUCFRi002-A
AC   CVCL_QX72
SY   GM23721 iPSC
DR   hPSCreg; KUCFRi002-A
DR   Wikidata; Q54900698
RX   PubMed=29034895;
CC   From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
CC   Sequence variation: Mutation; HGNC; 7225; MPZ; Simple; p.Ser140Thr (c.418T>A); ClinVar=VCV000447730; Zygosity=Heterozygous (PubMed=29034895).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29034895
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 10,11
ST   D16S539: 12
ST   D18S51: 15
ST   D19S433: 14,15
ST   D21S11: 30,32.2
ST   D2S1338: 22,25
ST   D3S1358: 17,18
ST   D5S818: 11,12
ST   D7S820: 10
ST   D8S1179: 15
ST   FGA: 21
ST   Penta D: 9,13
ST   Penta E: 7,15
ST   TH01: 9.3
ST   TPOX: 10,11
ST   vWA: 14,15
DI   NCIt; C118782; Charcot-Marie-Tooth disease type 1B
DI   ORDO; Orphanet_101082; Charcot-Marie-Tooth disease type 1B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_M916 ! GM23721
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29034895; DOI=10.1016/j.scr.2017.08.002;
RA   Son D., Kang P.J., Yun W., You S.;
RT   "Generation of induced pluripotent stem cell (iPSC) line from
RT   Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).";
RL   Stem Cell Res. 24:5-7(2017).
//