ID   SCVIi088-A
AC   CVCL_D0L8
SY   SCVIi-088A
DR   BioSamples; SAMEA114260508
DR   hPSCreg; SCVIi088-A
DR   Wikidata; Q123033430
RX   PubMed=37740996;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; p.Arg3391Ter (c.10171C>T); ClinVar=VCV000094428; Zygosity=Hemizygous (PubMed=37740996).
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   9Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37740996; DOI=10.1016/j.scr.2023.103207;
RA   Liu W.-Q., Zeng W.-S., Kong X.-H., Htet M.H., Yu R., Wheeler M.T.,
RA   Day J.W., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from Duchenne
RT   muscular dystrophy patients.";
RL   Stem Cell Res. 72:103207-103207(2023).
//