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Cellosaurus PSMi004-A (CVCL_WJ36)

[Text version]
Cell line name PSMi004-A
Synonyms HDF28-LQT1-iPS
Accession CVCL_WJ36
Resource Identification Initiative To cite this cell line use: PSMi004-A (RRID:CVCL_WJ36)
Comments From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=30974404).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Induced pluripotent stem cell

PubMed=30974404; DOI=10.1016/j.scr.2019.101431
Mura M., Lee Y.-K., Pisano F., Ginevrino M., Boni M., Calabro F., Crotti L., Valente E.M., Schwartz P.J., Tse H.-F., Gnecchi M.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.
Stem Cell Res. 37:101431-101431(2019)

Cell line databases/resources hPSCreg; PSMi004-A
Encyclopedic resources Wikidata; Q98128684
Entry history
Entry creation24-May-2019
Last entry update29-Jun-2023
Version number7