ID   UCLi012-A
AC   CVCL_WT96
SY   DMD iPSCs ex.70
DR   BioSamples; SAMEA5574041
DR   hPSCreg; UCLi012-A
DR   Wikidata; Q98133849
RX   PubMed=32087527;
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; p.Arg3381Ter (c.10141C>T); ClinVar=VCV000011273; Zygosity=Hemizygous (PubMed=32087527).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32087527; DOI=10.1016/j.scr.2019.101688;
RA   Ferrari G., Muntoni F., Tedesco F.S.;
RT   "Generation of two genomic-integration-free DMD iPSC lines with
RT   mutations affecting all dystrophin isoforms and potentially amenable
RT   to exon-skipping.";
RL   Stem Cell Res. 43:101688-101688(2020).
//