Cellosaurus cell line AIBNi015-A (CVCL

Cross-references
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; HGNC:20582; CYP2U1; Simple; p.Pro459Leu (c.1376C>T); ClinVar=VCV000571544; Zygosity=Heterozygous (PubMed=36166872). Mutation; HGNC; 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 Hannah C. Leeson, Denise Goh, David Coman, Ernst J. Wolvetang; 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; AIBNi015-A
Biological sample resources	BioSamples; SAMEA111323972
Encyclopedic resources	Wikidata; Q114310547
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5