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Cellosaurus UMGi158-B (CVCL_E4JF)

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Cell line name UMGi158-B
Synonyms CasQ2-CTRL; CASQ2-Ctrl1.1-K50
Accession CVCL_E4JF
Resource Identification Initiative To cite this cell line use: UMGi158-B (RRID:CVCL_E4JF)
Comments From: University Medical Center Goettingen; Goettingen; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1513; CASQ2; Simple_edited; p.Phe189Leu (c.567C>G); ClinVar=VCV000162814; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39378715).
Disease Catecholaminergic polymorphic ventricular tachycardia type 2 (NCIt: C148368)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0GM (UMGi158-A)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=39378715; DOI=10.1016/j.scr.2024.103538
Gideon Syed Ali, Sabine Rebs, Hanna Eberl, Clarissa Zinke, Daniela Hubscher, Wiebke Maurer, Alexandra Viktoria Busley, Lukas Cyganek, Katrin Streckfuss-Bomeke;
Generation of a heterozygous calsequestrin 2 F189L iPSC line (UMGi158-B) by CRISPR/Cas9 genome editing to investigate the cardiac pathophysiology of Takotsubo syndrome and catecholaminergic polymorphic ventricular tachycardia.
Stem Cell Res. 81:103538-103538(2024)

Cross-references
Cell line databases/resources hPSCreg; UMGi158-B
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1