ID   KUCFRi001-A
AC   CVCL_QX60
SY   GM04594 iPSC
DR   hPSCreg; KUCFRi001-A
DR   Wikidata; Q54900697
RX   PubMed=28677541;
CC   From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Val139Met (c.415G>A); ClinVar=VCV000010433; Zygosity=Heterozygous (PubMed=28677541).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=28677541
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 12,13
ST   D16S539: 13
ST   D18S51: 12
ST   D19S433: 13,16
ST   D21S11: 29,32.2
ST   D2S1338: 19,24
ST   D3S1358: 11,17
ST   D5S818: 10,13
ST   D7S820: 10,11
ST   D8S1179: 13,14
ST   FGA: 20,21
ST   Penta D: 11,15
ST   Penta E: 7,17
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C129068; Charcot-Marie-Tooth neuropathy X type 1
DI   ORDO; Orphanet_101075; X-linked Charcot-Marie-Tooth disease type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_GY21 ! GM04594
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 13
//
RX   PubMed=28677541; DOI=10.1016/j.scr.2017.03.006;
RA   Son, Daryeon
RA   Kang, Phil Jun
RA   Yun, Wonjin
RA   You, Seungkwon
RT   "Generation of induced pluripotent stem cell (iPSC) line from a
RT   36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation
RT   (CMTX).";
RL   Stem Cell Res. 21:9-12(2017).
//