ID   BBANTWi012-A-1
AC   CVCL_E3QV
SY   TTN_E48_V4623*
DR   BioSamples; SAMEA115499230
DR   hPSCreg; BBANTWi012-A-1
RX   PubMed=39167847;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple_edited; p.Val4623Ter (c.13836_13837insGATACATACAA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39167847).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C182078; Dilated cardiomyopathy-1G
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E3QU ! BBANTWi012-A
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39167847; DOI=10.1016/j.scr.2024.103536;
RA   Boen, Hanne Maria
RA   Vandendriessche, Bert
RA   Schippers, Jolien
RA   Rabaut, Laura
RA   Nijak-Paeske, Aleksandra
RA   Ponsaerts, Peter
RA   Van Craenenbroeck, Emeline M.
RA   Loeys, Bart Leo
RA   Alaerts, Maaike
RT   "Generation of four distinct isogenic cell lines with truncating
RT   variants in I-band or A-band titin.";
RL   Stem Cell Res. 81:103536-103536(2024).
//