ID   HIMRi005-A
AC   CVCL_D6P0
SY   FLNC p.Y2704X hiPSC
DR   BioSamples; SAMEA114710075
DR   hPSCreg; HIMRi005-A
RX   PubMed=38309149;
CC   From: Heimer Institute for Muscle Research; Bochum; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Asp2703_Tyr2704insTer (c.8112delC); ClinVar=VCV002580944; Zygosity=Heterozygous (PubMed=38309149).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206670; Myofibrillar myopathy 5
DI   ORDO; Orphanet_171445; Muscle filaminopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38309149; DOI=10.1016/j.scr.2024.103320;
RA   Daya N.M., Doring K., Zhuge H., Volke L., Stab V., Dietz J.,
RA   Athamneh M.J., Roos A., Zaehres H., Guttsches A.-K., Mavrommatis L.,
RA   Vorgerd M.;
RT   "Generation of two hiPSCs lines of two patients carrying truncating
RT   mutations in the dimerization domain of filamin C.";
RL   Stem Cell Res. 76:103320-103320(2024).
//