ID   AIBNi015-A
AC   CVCL_C1SK
SY   SPG1-AU01C15
DR   BioSamples; SAMEA111323972
DR   hPSCreg; AIBNi015-A
DR   Wikidata; Q114310547
RX   PubMed=36166872;
CC   From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; 20582; CYP2U1; Simple; p.Pro459Leu (c.1376C>T); ClinVar=VCV000571544; Zygosity=Heterozygous (PubMed=36166872).
CC   Sequence variation: Mutation; HGNC; 20582; CYP2U1; Simple; p.Arg488Trp (c.1462C>T); ClinVar=VCV000039504; Zygosity=Heterozygous (PubMed=36166872).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C190870; Spastic paraplegia 56
DI   ORDO; Orphanet_320411; Autosomal recessive spastic paraplegia type 56
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36166872; DOI=10.1016/j.scr.2022.102917;
RA   Leeson H.C., Goh D., Coman D., Wolvetang E.J.;
RT   "Generation of iPSC lines from hereditary spastic paraplegia 56
RT   (SPG56) patients and family members carrying CYP2U1 mutations.";
RL   Stem Cell Res. 64:102917-102917(2022).
//