Cellosaurus cell line IMSUTi001-A (CVCL

Cross-references
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; IMSUTi001-A
Encyclopedic resources	Wikidata; Q94317346
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	9