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Cellosaurus FUi001-A-1 (CVCL_RX87)

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Cell line name FUi001-A-1
Synonyms D1-1 TALEN
Accession CVCL_RX87
Resource Identification Initiative To cite this cell line use: FUi001-A-1 (RRID:CVCL_RX87)
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; HGNC:10585; SCN1A; Simple_corrected; p.Arg1645Ter (c.4933C>T); ClinVar=VCV000189921; Zygosity=Heterozygous; Note=By TALEN (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 Parent: CVCL_T890 (FUi001-B)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=29453127; DOI=10.1016/j.scr.2018.01.036
Yasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, Tetsushi Sakuma, Sadafumi Suzuki, Mitsuru Ishikawa, Takashi Yamamoto, Jun Mitsui, Hitomi Tsuji, Hideyuki Okano, Shinichi Hirose;
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-A
Encyclopedic resources Wikidata; Q54835265
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12