ID   ZJUCHi001-A
AC   CVCL_VT14
DR   hPSCreg; ZJUCHi001-A
DR   Wikidata; Q98136539
RX   PubMed=30785048;
CC   From: Children's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7225; MPZ; Simple; p.Arg98Cys (c.292C>T); ClinVar=VCV000014175; Zygosity=Heterozygous (PubMed=30785048).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell; CL=CL_0000066.
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)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30785048; DOI=10.1016/j.scr.2019.101407;
RA   Xu J.-K., Wang Y.-P., He J., Xia W.-C., Zou Y., Ruan W.-C., Lou Q.,
RA   Li Y., Li H.-F., Chen W.;
RT   "Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B)
RT   iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.";
RL   Stem Cell Res. 35:101407-101407(2019).
//