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Cellosaurus AIBNi016-A (CVCL_C1SL)

[Text version]
Cell line name AIBNi016-A
Synonyms SPG2-S376C1
Accession CVCL_C1SL
Resource Identification Initiative To cite this cell line use: AIBNi016-A (RRID:CVCL_C1SL)
Comments From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 20582; CYP2U1; Simple; p.Ile158Serfs*2 (c.471delC); ClinVar=VCV000655971; Zygosity=Heterozygous (PubMed=36166872).
  • Mutation; HGNC; 20582; CYP2U1; Simple; p.Leu362Pro (c.1085T>C); 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 1Y
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; AIBNi016-A
Biological sample resources BioSamples; SAMEA111323975
Encyclopedic resources Wikidata; Q114310550
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4