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Cellosaurus ZJUi010-A (CVCL_C0IJ)

[Text version]
Cell line name ZJUi010-A
Synonyms 161103SPYLQTFSDC12; ZJULLi002-A
Accession CVCL_C0IJ
Resource Identification Initiative To cite this cell line use: ZJUi010-A (RRID:CVCL_C0IJ)
Comments From: Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Tyr652Ter (c.1956C>A); Zygosity=Heterozygous (PubMed=35569348).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=35569348; DOI=10.1016/j.scr.2022.102813
Guo F.-F., Sun Y.-X., Wang H.-K., Wang H., Zhou J.-J., Fan H.-P., Su J., Gong T.-Y., Jiang C.-Y., Liang P.
Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation.
Stem Cell Res. 62:102813-102813(2022)

Cross-references
Cell line databases/resources hPSCreg; ZJUi010-A
Biological sample resources BioSamples; SAMEA14091364
Encyclopedic resources Wikidata; Q112930592
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5