Cellosaurus cell line IMSUTi001-C (CVCL

Cross-references
Cell line name	IMSUTi001-C
Synonyms	TkSSD1#AM
Accession	CVCL_WW36
Resource Identification Initiative	To cite this cell line use: IMSUTi001-C (RRID:CVCL_WW36)
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_WW34 ! IMSUTi001-A CVCL_WW35 ! IMSUTi001-B
Sex of cell	Female
Age at sampling	8Y
Category	Induced pluripotent stem cell
Publications	PubMed=31255830; DOI=10.1016/j.scr.2019.101485 Takuma Yamamoto, Makoto Otsu, Takashi Okumura, Yumi Horie, Yasuharu Ueno, Hideki Taniguchi, Manami Ohtaka, Mahito Nakanishi, Yuki Abe, Takehiko Murase, Takahiro Umehara, Kazuya Ikematsu; 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-C
Encyclopedic resources	Wikidata; Q94317354
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	9