Cellosaurus cell line FALS-e46 (CVCL

Cellosaurus FALS-e46 (CVCL_RH76)

Cross-references
Cell line name	FALS-e46
Accession	CVCL_RH76
Resource Identification Initiative	To cite this cell line use: FALS-e46 (RRID:CVCL_RH76)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Asp (c.1549C>G); ClinVar=VCV000016221; Zygosity=Heterozygous (PubMed=26997647).
Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_RH77 ! FALS-e48 CVCL_RH78 ! FALS-e54
Sex of cell	Male
Age at sampling	39Y
Category	Induced pluripotent stem cell
Publications	PubMed=26997647; DOI=10.1016/j.stemcr.2016.02.011; PMCID=PMC4834049 Naoki Ichiyanagi, Koki Fujimori, Masato Yano, Chikako Ishihara-Fujisaki, Takefumi Sone, Tetsuya Akiyama, Yohei Okada, Wado Akamatsu, Takuya Matsumoto, Mitsuru Ishikawa, Yoshinori Nishimoto ...Show all 19 authors... , Yasuharu Ishihara, Tetsushi Sakuma, Takashi Yamamoto, Hitomi Tsuiji, Naoki Suzuki, Hitoshi Warita, Masashi Aoki, Hideyuki Okano; Show fewer authors Establishment of in vitro FUS-associated familial amyotrophic lateral sclerosis model using human induced pluripotent stem cells. Stem Cell Reports 6:496-510(2016) PubMed=30127392; DOI=10.1038/s41591-018-0140-5 Koki Fujimori, Mitsuru Ishikawa, Asako Otomo, Naoki Atsuta, Ryoichi Nakamura, Tetsuya Akiyama, Shinji Hadano, Masashi Aoki, Hideyuki Saya, Gen Sobue, Hideyuki Okano; Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent. Nat. Med. 24:1579-1589(2018)
Cell line databases/resources	SKIP; SKIP000776
Encyclopedic resources	Wikidata; Q54833232
Entry history
Entry creation	05-Mar-2018
Last entry update	10-Apr-2025
Version number	10