ID   HIMRi001-A
AC   CVCL_D0F8
SY   p.Q1662X FLNC hiPSCs
DR   BioSamples; SAMEA113971216
DR   hPSCreg; HIMRi001-A
DR   Wikidata; Q123031672
RX   PubMed=37748332;
CC   From: Heimer Institute for Muscle Research; Bochum; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Gln1662Ter (c.4984C>T); ClinVar=VCV000852214; Zygosity=Heterozygous (PubMed=37748332).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37748332; DOI=10.1016/j.scr.2023.103210;
RA   Daya N.M., Mavrommatis L., Zhuge H., Athamneh M.J., Roos A., Glaser D.,
RA   Doring K., Zaehres H., Vorgerd M., Guttsches A.-K.;
RT   "Generation of a human iPSC line (HIMRi001-A) from a patient with
RT   filaminopathy.";
RL   Stem Cell Res. 72:103210-103210(2023).
//