Cellosaurus cell line HDZi001-A (CVCL

Cross-references
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; 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., Szymanski de Toledo M.A., 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)
Cell line databases/resources	hPSCreg; HDZi001-A
Biological sample resources	BioSamples; SAMEA7001542
Encyclopedic resources	Wikidata; Q102114108
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7