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Cellosaurus IMSUTi001-A (CVCL_WW34)

[Text version]

Cell line name IMSUTi001-A
Synonyms TkSSD1#AA
Accession CVCL_WW34
Resource Identification Initiative To cite this cell line use: IMSUTi001-A (RRID:CVCL_WW34)
Comments From: Institute of Medical Science, University of Tokyo; Tokyo; Japan.
Population: Asian.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 11444; STXBP1; Simple; p.Arg551His (c.1652G>A); ClinVar=VCV000566474; Zygosity=Heterozygous (PubMed=31255830).
Disease Developmental and epileptic encephalopathy 4 (NCIt: C162472)
Early infantile epileptic encephalopathy (ORDO: Orphanet_1934)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WW35 ! IMSUTi001-B
CVCL_WW36 ! IMSUTi001-C
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=31255830; DOI=10.1016/j.scr.2019.101485
Yamamoto T., Otsu M., Okumura T., Horie Y., Ueno Y., Taniguchi H., Ohtaka M., Nakanishi M., Abe Y., Murase T., Umehara T., Ikematsu K.
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation.
Stem Cell Res. 39:101485-101485(2019)

Cross-references
Cell line databases/resources hPSCreg; IMSUTi001-A
Encyclopedic resources Wikidata; Q94317346
Entry history
Entry creation06-Sep-2019
Last entry update17-Mar-2022
Version number6