ID   UCSFi001-A-51
AC   CVCL_A8PN
SY   DYT1-HOMO-2F2; YH653-MUT-2F2-HOMO; ULLi002-A-51
DR   BioSamples; SAMEA8868386
DR   hPSCreg; UCSFi001-A-51
DR   Wikidata; Q108821429
RX   PubMed=34536661;
CC   From: University of Louisiana at Lafayette; Lafayette; USA.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3098; TOR1A; Simple_edited; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34536661).
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=34536661
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,12
ST   D16S539: 9,10
ST   D18S51: 12,21
ST   D19S433: 15,16
ST   D21S11: 29
ST   D2S1338: 17,18
ST   D3S1358: 15,16
ST   D5S818: 10
ST   D7S820: 10,12
ST   D8S1179: 11,13
ST   FGA: 22,25
ST   Penta D: 9,11
ST   Penta E: 13,15
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,19
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_Y803 ! GM25256
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34536661; DOI=10.1016/j.scr.2021.102536; PMCID=PMC8561712;
RA   Akter, Masuma
RA   Cui, Hao-Chen
RA   Chen, Yi-Hsien
RA   Ding, Bao-Jin
RT   "Generation of two induced pluripotent stem cell lines with
RT   heterozygous and homozygous GAG deletion in TOR1A gene from a healthy
RT   hiPSC line.";
RL   Stem Cell Res. 56:102536-102536(2021).
//