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Cellosaurus HDZi003-A (CVCL_D0QG)

[Text version]
Cell line name HDZi003-A
Synonyms hiPSC NP0038
Accession CVCL_D0QG
Resource Identification Initiative To cite this cell line use: HDZi003-A (RRID:CVCL_D0QG)
Comments From: Heart and Diabetes Center North Rhine Westphalia; Bad Oeynhausen; Germany.
Population: Caucasian.
Omics: Deep exome analysis.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 28472; TMEM43; Simple; p.Ser358Leu (c.1073C>T); ClinVar=VCV000000734; Zygosity=Heterozygous (PubMed=38430734).
Disease Familial arrhythmogenic right ventricular dysplasia 5 (NCIt: C173470)
Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D6IR (HDZi003-A-1)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=38430734; DOI=10.1016/j.scr.2024.103354
Ratnavadivel S., Dammeier J., Gaertner A., Szymanski de Toledo M.A., Zenke M., Gummert J., Rasmussen T.B., Klinke N., Jurgens K., Meyer H., Paululat A., Milting H.
Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9.
Stem Cell Res. 76:103354-103354(2024)

Cross-references
Cell line databases/resources hPSCreg; HDZi003-A
Biological sample resources BioSamples; SAMEA114251188
Encyclopedic resources Wikidata; Q123031574
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3