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Cellosaurus CSUi002-A-1 (CVCL_B0GP)

[Text version]

Cell line name CSUi002-A-1
Accession CVCL_B0GP
Resource Identification Initiative To cite this cell line use: CSUi002-A-1 (RRID:CVCL_B0GP)
Comments From: Central South University; Changsha; China.
Population: Caucasian.
Characteristics: Using CRISPR/Cas9 LMNB1 has been endogenously tagged in one allele at the N-terminus with EGFP (PubMed=34438319).
Transfected with: UniProtKB; P42212; GFP (with p.Phe64Leu, p.Ser65Thr and p.His231Leu = EGFP).
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (from parent cell line).
Disease Autosomal dominant torsion dystonia 1 (NCIt: C118780)
Early-onset generalized limb-onset dystonia (ORDO: Orphanet_256)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A6XJ (CSUi002-A)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=34438319; DOI=10.1016/j.scr.2021.102505
Tang Y., Ren J., Li C.-C.
Establishment of a GFP::LMNB1 knockin cell line (CSUi002-A-1) from a dystonia patient-specific iPSC by CRISPR/Cas9 editing.
Stem Cell Res. 55:102505-102505(2021)

Cross-references
Cell line databases/resources hPSCreg; CSUi002-A-1
Encyclopedic resources Wikidata; Q108820088
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3