ID   ZJUi001-C
AC   CVCL_ZL92
SY   YFL-30; YFL-Urine-iPSC-#30
DR   hPSCreg; ZJUi001-C
DR   Wikidata; Q98136549
RX   PubMed=33039804;
CC   From: Women's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; p.Gly166Val (c.497G>T); ClinVar=VCV000448900; Zygosity=Hemizygous (PubMed=33039804).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell; CL=CL_0000066.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZL90 ! ZJUi001-A
OI   CVCL_ZL91 ! ZJUi001-B
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33039804; DOI=10.1016/j.scr.2020.102021;
RA   Su J., Wang J., Wang L., Li T.-Y., Wang H.-K., Shen J.-X., Wang H.,
RA   Zhang J., Lin W.-Q., Huang J.-Y., Liang P.;
RT   "Generation of five induced pluripotent stem cell lines with
RT   DMD/c.497G > T mutation from renal epithelial cells of a Duchenne
RT   muscular dystrophy patient and a recessive carrier parent.";
RL   Stem Cell Res. 49:102021-102021(2020).
//