ID   UCSFi001-A-65
AC   CVCL_C1XL
SY   iPSC-RBM20 R634Q
DR   BioSamples; SAMEA12399777
DR   hPSCreg; UCSFi001-A-65
DR   Wikidata; Q114313153
RX   PubMed=32905764;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:27424; RBM20; Simple_edited; p.Arg634Gln (c.1901G>A); ClinVar=VCV000000269; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32905764).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C174435; Dilated cardiomyopathy-1DD
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y803 ! GM25256
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=32905764; DOI=10.1016/j.celrep.2020.108117; PMCID=PMC8168789;
RA   Briganti F., Sun H., Wei W., Wu J.-Y., Zhu C.-C., Liss M., Karakikes I.,
RA   Rego S., Cipriano A., Snyder M.P., Meder B., Xu Z.-Y., Millat G.,
RA   Gotthardt M., Mercola M., Steinmetz L.M.;
RT   "iPSC modeling of RBM20-deficient DCM identifies upregulation of RBM20
RT   as a therapeutic strategy.";
RL   Cell Rep. 32:108117.1-108117.15(2020).
//