ID   CSUi002-A-2
AC   CVCL_C0JT
SY   LSUHSi003-A-2; DYT1-CR-4B2
DR   BioSamples; SAMEA12515777
DR   hPSCreg; CSUi002-A-2
DR   Wikidata; Q112929421
RX   PubMed=35533513;
CC   From: Louisiana State University Health Sciences Center in Shreveport; Shreveport; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple_corrected; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35533513).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=35533513
ST   Amelogenin: X,Y
ST   CSF1PO: 10,13
ST   D13S317: 9,12
ST   D18S51: 13,16
ST   D19S433: 16,17.2
ST   D21S11: 30,32.5
ST   D2S1338: 17,18
ST   D3S1358: 15,18
ST   D5S818: 10
ST   D7S820: 11
ST   D8S1179: 13,16
ST   Penta D: 9,13
ST   TH01: 6,8
ST   TPOX: 8,9
ST   vWA: 14,15
DI   NCIt; C118780; Autosomal dominant torsion dystonia 1
DI   ORDO; Orphanet_256; Early-onset generalized limb-onset dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A6XJ ! CSUi002-A
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35533513; DOI=10.1016/j.scr.2022.102807; PMCID=PMC9366766;
RA   Akter, Masuma
RA   Cui, Hao-Chen
RA   Chen, Yi-Hsien
RA   Ding, Bao-Jin
RT   "Generation of gene-corrected isogenic control cell lines from a DYT1
RT   dystonia patient iPSC line carrying a heterozygous GAG mutation in
RT   TOR1A gene.";
RL   Stem Cell Res. 62:102807-102807(2022).
//