Cellosaurus cell line SMUSHi002-A (CVCL

Cross-references
Cell line name	SMUSHi002-A
Synonyms	FUS iPSC
Accession	CVCL_C6SQ
Resource Identification Initiative	To cite this cell line use: SMUSHi002-A (RRID:CVCL_C6SQ)
Comments	From: Southern Medical University, Shenzhen Hospital; Shenzhen; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg521His (c.1562G>A); ClinVar=VCV000016225; Zygosity=Heterozygous (PubMed=38141357).
Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=38141357; DOI=10.1016/j.scr.2023.103286 Tang M., Xiong M., Zhou W.-Y., Lei J.-F., Huang M., Huang C.-Y., Wang F., Liu J., Li J., Xu X.-Q. Generation of a human induced pluripotent stem cell line (SMUSHi002-A) from an ALS patient carrying a heterozygous mutation c.1562G > A in the FUS gene. Stem Cell Res. 74:103286-103286(2024)
Cell line databases/resources	hPSCreg; SMUSHi002-A
Biological sample resources	BioSamples; SAMEA114638876
Encyclopedic resources	Wikidata; Q117704874
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4