ID   AIBNi017-A
AC   CVCL_C1SM
SY   SPGh1-S075mC2
DR   BioSamples; SAMEA111323977
DR   hPSCreg; AIBNi017-A
DR   Wikidata; Q114310552
RX   PubMed=36166872;
CC   From: Australian Institute for Bioengineering and Nanotechnology; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; HGNC:20582; CYP2U1; Simple; p.Ile158Serfs*2 (c.471delC); ClinVar=VCV000655971; Zygosity=Heterozygous (PubMed=36166872).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=36166872; DOI=10.1016/j.scr.2022.102917;
RA   Leeson, Hannah C.
RA   Goh, Denise
RA   Coman, David
RA   Wolvetang, Ernst 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).
//