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Cellosaurus BBANTWi012-A-1 (CVCL_E3QV)

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Cell line name BBANTWi012-A-1
Synonyms TTN_E48_V4623*
Accession CVCL_E3QV
Resource Identification Initiative To cite this cell line use: BBANTWi012-A-1 (RRID:CVCL_E3QV)
Comments From: Biobank Antwerpen; Antwerp; Belgium.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12403; TTN; Simple_edited; p.Val4623Ter (c.13836_13837insGATACATACAA); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39167847).
Disease Dilated cardiomyopathy-1G (NCIt: C182078)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E3QU (BBANTWi012-A)
Sex of cell Female
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=39167847; DOI=10.1016/j.scr.2024.103536
Hanne Maria Boen, Bert Vandendriessche, Jolien Schippers, Laura Rabaut, Aleksandra Nijak-Paeske, Peter Ponsaerts, Emeline M. Van Craenenbroeck, Bart Leo Loeys, Maaike Alaerts;
Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin.
Stem Cell Res. 81:103536-103536(2024)

Cross-references
Cell line databases/resources hPSCreg; BBANTWi012-A-1
Biological sample resources BioSamples; SAMEA115499230
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1