ID   CSUi002-A-1
AC   CVCL_B0GP
DR   hPSCreg; CSUi002-A-1
DR   Wikidata; Q108820088
RX   PubMed=34438319;
CC   From: Central South University; Changsha; China.
CC   Population: Caucasian.
CC   Characteristics: Using CRISPR/Cas9 LMNB1 has been endogenously tagged in one allele at the N-terminus with EGFP (PubMed=34438319).
CC   Sequence variation: Mutation; HGNC; 3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (from parent cell line).
CC   Transfected with: UniProtKB; P42212; GFP (with p.Phe64Leu, p.Ser65Thr and p.His231Leu = EGFP).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C118780; Autosomal dominant torsion dystonia 1
DI   ORDO; Orphanet_256; Early-onset generalized limb-onset dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_A6XJ ! CSUi002-A
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 17-03-22; Version: 3
//
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).
//