ID   UCSFi002-A
AC   CVCL_E8WP
DR   BioSamples; SAMEA116084039
DR   hPSCreg; UCSFi002-A
RX   PubMed=39662461;
CC   From: Icahn School of Medicine at Mount Sinai; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:939; BAG3; Simple; p.Pro209Leu (c.626C>T); ClinVar=VCV000005981; Zygosity=Heterozygous (PubMed=39662461).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C217088; Myofibrillar myopathy 6
DI   ORDO; Orphanet_199340; Muscular dystrophy, Selcen type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15-19Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=39662461; DOI=10.1016/j.scr.2024.103626;
RA   Filippi, Kerstin
RA   Risse, Isabelle
RA   Judge, Luke M.
RA   Conklin, Bruce R.
RA   Fleischmann, Bernd K.
RA   Hesse, Michael
RT   "Generation and characterization of an isogenic control line by
RT   correcting the BAG3 P209L mutation of a human induced pluripotent
RT   stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.";
RL   Stem Cell Res. 82:103626-103626(2025).
//