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Cellosaurus FUi001-B (CVCL_T890)

[Text version]
Cell line name FUi001-B
Synonyms D1-1
Accession CVCL_T890
Secondary accession CVCL_RX88
Resource Identification Initiative To cite this cell line use: FUi001-B (RRID:CVCL_T890)
Comments From: Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University; Fukuoka; Japan.
Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Arg1645Ter (c.4933C>T); ClinVar=VCV000189921; Zygosity=Heterozygous (PubMed=29453127).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RX87 (FUi001-A-1)
Originate from same individual CVCL_T891 ! FUi001-A
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=23639079; DOI=10.1186/1756-6606-6-19
Higurashi N., Uchida T., Lossin C., Misumi Y., Okada Y., Akamatsu W., Imaizumi Y., Zhang B., Nabeshima K., Mori M.X., Katsurabayashi S., Shirasaka Y., Okano H., Hirose S.
A human Dravet syndrome model from patient induced pluripotent stem cells.
Mol. Brain 6:19.1-19.12(2013)

PubMed=29453127; DOI=10.1016/j.scr.2018.01.036
Tanaka Y., Sone T., Higurashi N., Sakuma T., Suzuki S., Ishikawa M., Yamamoto T., Mitsui J., Tsuji H., Okano H., Hirose S.
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene.
Stem Cell Res. 28:100-104(2018)

Cross-references
Cell line databases/resources hPSCreg; FUi001-B
SKIP; SKIP000233 - Discontinued
Encyclopedic resources Wikidata; Q54835266
Entry history
Entry creation03-Feb-2014
Last entry update29-Jun-2023
Version number12