ID   AIBNi018-A
SY   SPGh2-S964pC6
DR   BioSamples; SAMEA111323979
DR   hPSCreg; AIBNi018-A
DR   Wikidata; Q114310555
RX   PubMed=36166872;
CC   From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; 20582; CYP2U1; Simple; p.Leu362Pro (c.1085T>C); Zygosity=Heterozygous (PubMed=36166872).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   37Y
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).