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Cellosaurus AIBNi015-A (CVCL_C1SK)

[Text version]
Cell line name AIBNi015-A
Synonyms SPG1-AU01C15
Accession CVCL_C1SK
Resource Identification Initiative To cite this cell line use: AIBNi015-A (RRID:CVCL_C1SK)
Comments From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 20582; CYP2U1; Simple; p.Pro459Leu (c.1376C>T); ClinVar=VCV000571544; Zygosity=Heterozygous (PubMed=36166872).
  • Mutation; HGNC; 20582; CYP2U1; Simple; p.Arg488Trp (c.1462C>T); ClinVar=VCV000039504; Zygosity=Heterozygous (PubMed=36166872).
Disease Spastic paraplegia 56 (NCIt: C190870)
Autosomal recessive spastic paraplegia type 56 (ORDO: Orphanet_320411)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=36166872; DOI=10.1016/j.scr.2022.102917
Leeson H.C., Goh D., Coman D., Wolvetang E.J.
Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.
Stem Cell Res. 64:102917-102917(2022)

Cross-references
Cell line databases/resources hPSCreg; AIBNi015-A
Biological sample resources BioSamples; SAMEA111323972
Encyclopedic resources Wikidata; Q114310547
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4