ID   CSUi002-A
AC   CVCL_A6XJ
SY   iPSC-DYT1-#17
DR   BioSamples; SAMEA7976393
DR   hPSCreg; CSUi002-A
DR   Wikidata; Q107114730
RX   PubMed=33706202;
RX   PubMed=34438319;
RX   PubMed=35533513;
CC   From: Central South University; Changsha; China.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (PubMed=33706202).
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)
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33706202; DOI=10.1016/j.scr.2021.102277;
RA   Wu J.-J., Ren J., Luo H., Zuo X.-X., Tang Y.;
RT   "Generation of patient-specific induced pluripotent stem cell line
RT   (CSUi002-A) from a patient with isolated dystonia carrying TOR1A
RT   mutation.";
RL   Stem Cell Res. 53:102277-102277(2021).
//
RX   PubMed=34438319; DOI=10.1016/j.scr.2021.102505;
RA   Tang Y., Ren J., Li C.-C.;
RT   "Establishment of a GFP::LMNB1 knockin cell line (CSUi002-A-1) from a
RT   dystonia patient-specific iPSC by CRISPR/Cas9 editing.";
RL   Stem Cell Res. 55:102505-102505(2021).
//
RX   PubMed=35533513; DOI=10.1016/j.scr.2022.102807;
RA   Akter M., Cui H.-C., Chen Y.-H., Ding B.-J.;
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).
//