ID   UKBi022-A
AC   CVCL_E8WH
SY   iLB-BAG3-301bm-s2; DE20RENUKBD102753 / R06C02
DR   BioSamples; SAMEA116110572
DR   hPSCreg; UKBi022-A
RX   PubMed=39662463;
RX   PubMed=40252588;
CC   From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:939; BAG3; Simple; p.Pro209Leu (c.626C>T); ClinVar=VCV000005981; Zygosity=Heterozygous (PubMed=40252588).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C217088; Myofibrillar myopathy 6
DI   ORDO; Orphanet_199340; Muscular dystrophy, Selcen type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
//
RX   PubMed=39662463; DOI=10.1016/j.scr.2024.103627;
RA   Filippi, Kerstin
RA   Wiemann, Martin
RA   Fleischmann, Bernd K.
RA   Hesse, Michael
RT   "Generation of two isogenic control lines by correcting the BAG3 P209L
RT   mutation of human induced pluripotent stem cell (hiPSC) lines from
RT   patients with myofibrillar myopathy-6.";
RL   Stem Cell Res. 82:103627-103627(2025).
//
RX   PubMed=40252588; DOI=10.1016/j.scr.2025.103712;
RA   Filippi, Kerstin
RA   Wiemann, Martin
RA   Rupp, Stefan
RA   Peitz, Michael
RA   Fleischmann, Bernd K.
RA   Hesse, Michael
RT   "Generation of human induced pluripotent stem cell (iPSC) lines from
RT   two patients with BAG3 P209L myofibrillar myopathy-6.";
RL   Stem Cell Res. 86:103712-103712(2025).
//