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Cellosaurus MUSIi009-A-1 (CVCL_YI90)

[Text version]
Cell line name MUSIi009-A-1
Synonyms p.A735V-SCN5A hiPSC_4.3
Accession CVCL_YI90
Resource Identification Initiative To cite this cell line use: MUSIi009-A-1 (RRID:CVCL_YI90)
Comments From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10593; SCN5A; Simple_edited; p.Ala735Val (c.2204C>T); ClinVar=VCV000009391; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31677524).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WU23 (MUSIi009-A)
Sex of cell Male
Age at sampling Fetus
Category Induced pluripotent stem cell
Publications

PubMed=31677524; DOI=10.1016/j.scr.2019.101618
Angsutararux P., Luanpitpong S., Chingsuwanrote P., Supraditaporn K., Waeteekul S., Terbto P., Lorthongpanich C., Laowtammathron C., U-pratya Y., Issaragrisil S.
Generation of human induced pluripotent stem cell line carrying SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by CRISPR/Cas9-mediated genome editing.
Stem Cell Res. 41:101618-101618(2019)

Cross-references
Cell line databases/resources hPSCreg; MUSIi009-A-1
SKIP; SKIP005850
Encyclopedic resources Wikidata; Q95991529
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9