ID   ZJUCHi002-A
AC   CVCL_WG63
DR   hPSCreg; ZJUCHi002-A
DR   Wikidata; Q98136541
RX   PubMed=30807887;
CC   From: Children's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:16877; MFN2; Simple; p.Pro251Leu (c.752C>T); ClinVar=VCV000637945; Zygosity=Heterozygous (PubMed=30807887).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C150646; Charcot-Marie-Tooth disease type 2A2A
DI   ORDO; Orphanet_99947; Autosomal dominant Charcot-Marie-Tooth disease type 2A2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=30807887; DOI=10.1016/j.scr.2019.101411;
RA   Xu J.-K., Fu Y., Xia W.-C., He J., Zou Y., Ruan W.-C., Lou Q., Li Y.,
RA   Pan J.-W., Li H.-F., Chen W.;
RT   "Generation of induced pluripotent stem cell line, ZJUCHi002-A, from
RT   Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of
RT   c.752C>T in MFN2.";
RL   Stem Cell Res. 36:101411-101411(2019).
//