ID   SDUBMSi001-A
AC   CVCL_YT38
DR   BioSamples; SAMEA6592711
DR   hPSCreg; SDUBMSi001-A
DR   SKIP; SKIP005690
DR   Wikidata; Q98129491
RX   PubMed=32045731;
CC   From: School of Basic Medical Sciences, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 888; KIF1A; Simple; p.Thr258Met (c.773C>T); ClinVar=VCV000464261; Zygosity=Heterozygous (PubMed=32045731).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C170435; Spastic paraplegia 30
DI   ORDO; Orphanet_101010; Autosomal spastic paraplegia type 30
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32045731; DOI=10.1016/j.scr.2020.101727;
RA   Wang X.-J., Ma Y.-Y., Duan R.-N., Liu X.-L., Zhang H.-Y., Ma J.,
RA   Liu Y., Sun W.-J., Liu Q.-J.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying
RT   KIF1A c.773C>T missense mutation.";
RL   Stem Cell Res. 43:101727-101727(2020).
//