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Cellosaurus CSUi002-A (CVCL_A6XJ)

[Text version]
Cell line name CSUi002-A
Synonyms iPSC-DYT1-#17
Accession CVCL_A6XJ
Resource Identification Initiative To cite this cell line use: CSUi002-A (RRID:CVCL_A6XJ)
Comments From: Central South University; Changsha; China.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (PubMed=33706202).
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 Children:
CVCL_B0GP (CSUi002-A-1)CVCL_C0JT (CSUi002-A-2)CVCL_C0JU (CSUi002-A-3)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=35533513

Markers:
AmelogeninX,Y
CSF1PO10,13
D2S133817,18
D3S135815,18
D5S81810
D7S82011
D8S117913,16
D13S3179,12
D18S5113,16
D19S43316,17.2
D21S1130,32.5
Penta D9,13
TH016,8
TPOX8,9
vWA14,15

Run an STR similarity search on this cell line
Publications

PubMed=33706202; DOI=10.1016/j.scr.2021.102277
Wu J.-J., Ren J., Luo H., Zuo X.-X., Tang Y.
Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation.
Stem Cell Res. 53:102277-102277(2021)

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)

PubMed=35533513; DOI=10.1016/j.scr.2022.102807
Akter M., Cui H.-C., Chen Y.-H., Ding B.-J.
Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene.
Stem Cell Res. 62:102807-102807(2022)

Cross-references
Cell line databases/resources hPSCreg; CSUi002-A
Biological sample resources BioSamples; SAMEA7976393
Encyclopedic resources Wikidata; Q107114730
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number6