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Cellosaurus SCVIi076-A (CVCL_C7YE)

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Cell line name SCVIi076-A
Synonyms SCVIi076A; SCVi076A
Accession CVCL_C7YE
Resource Identification Initiative To cite this cell line use: SCVIi076-A (RRID:CVCL_C7YE)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7del; Zygosity=Homozygous (PubMed=37087898).
Disease Spinal muscular atrophy (NCIt: C85075)
Proximal spinal muscular atrophy (ORDO: Orphanet_70)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=37087898; DOI=10.1016/j.scr.2023.103095; PMCID=PMC11068589
Wen-Shu Zeng, Xiao-Hui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu;
Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene.
Stem Cell Res. 69:103095-103095(2023)

Cross-references
Cell line databases/resources hPSCreg; SCVIi076-A
Biological sample resources BioSamples; SAMEA112288085
Encyclopedic resources Wikidata; Q123033416
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number4