ID   BBANTWi012-A-3
AC   CVCL_E3QX
SY   iPSC_FB_F19901C3_TTN_E357_E33459*_N33456N_C30; TTN_E357_E33459*_N33456N
DR   hPSCreg; BBANTWi012-A-3
RX   PubMed=39167847;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple_edited; p.Glu33459Ter (c.100373_100374insT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39167847).
CC   Sequence variation: Mutation; HGNC; HGNC:12403; TTN; Simple_edited; p.Asn33456Asn (c.100368C>T); 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 H.M., Vandendriessche B., Schippers J., Rabaut L., Nijak-Paeske A.,
RA   Ponsaerts P., Van Craenenbroeck E.M., Loeys B.L., Alaerts M.;
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).
//