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Cellosaurus TAUi001-A-1 (CVCL_ZA78)

[Text version]

Cell line name TAUi001-A-1
Synonyms JPH2
Accession CVCL_ZA78
Resource Identification Initiative To cite this cell line use: TAUi001-A-1 (RRID:CVCL_ZA78)
Comments From: University of Tampere; Tampere; Finland.
Population: Caucasian.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 14202; JPH2; Simple_corrected; p.Thr161Lys (c.482C>A); Zygosity=Heterozygous (hPSCreg).
Disease Familial hypertrophic cardiomyopathy type 17 (NCIt: C172093)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZA77 (TAUi001-A)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; TAUi001-A-1
Biological sample resources BioSamples; SAMEA6880675
Other Wikidata; Q98133171
Entry history
Entry creation02-Jul-2020
Last entry update20-May-2021
Version number4