ID   SDQLCHi007-A
AC   CVCL_XJ79
DR   hPSCreg; SDQLCHi007-A
DR   SKIP; SKIP005646
DR   Wikidata; Q98129458
RX   PubMed=31812072;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex49-50del; Zygosity=Hemizygous (PubMed=31812072).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y7M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31812072; DOI=10.1016/j.scr.2019.101666;
RA   Guan J.-Y., Liu X.-N., Zhang H.-Y., Yang X.-M., Ma Y.-Y., Li Y.,
RA   Gai Z.-T., Liu Y.;
RT   "Reprogramming of human peripheral blood mononuclear cell (PBMC) from
RT   a Chinese patient suffering Duchenne muscular dystrophy to iPSC line
RT   (SDQLCHi007-A) carrying deletion of 49-50 exons in the DMD gene.";
RL   Stem Cell Res. 42:101666-101666(2020).
//