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Cellosaurus SMUSHi002-A (CVCL_C6SQ)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; SMUSHi002-A
Biological sample resources BioSamples; SAMEA114638876
Encyclopedic resources Wikidata; Q117704874
Entry history
Entry creation21-Mar-2023
Last entry update02-May-2024
Version number3