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Cellosaurus HDZi001-A (CVCL_ZW15)

[Text version]
Cell line name HDZi001-A
Synonyms hiPSC NP0039
Accession CVCL_ZW15
Resource Identification Initiative To cite this cell line use: HDZi001-A (RRID:CVCL_ZW15)
Comments From: Heart and Diabetes Center North Rhine Westphalia; Bad Oeynhausen; Germany.
Population: Caucasian.
Omics: Array-based CGH.
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=32858485).
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)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=32858485; DOI=10.1016/j.scr.2020.101957
Ratnavadivel S., de Toledo M.A.S., Rasmussen T.B., Saric T., Gummert J., Zenke M., Milting H.
Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L.
Stem Cell Res. 48:101957-101957(2020)

Cross-references
Cell line databases/resources hPSCreg; HDZi001-A
Biological sample resources BioSamples; SAMEA7001542
Encyclopedic resources Wikidata; Q102114108
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6