Cellosaurus logo
expasy logo

Cellosaurus CSUi002-A-2 (CVCL_C0JT)

[Text][XML][JSON]
Cell line name CSUi002-A-2
Synonyms LSUHSi003-A-2; DYT1-CR-4B2
Accession CVCL_C0JT
Resource Identification Initiative To cite this cell line use: CSUi002-A-2 (RRID:CVCL_C0JT)
Comments From: Louisiana State University Health Sciences Center in Shreveport; Shreveport; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3098; TOR1A; Simple_corrected; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35533513).
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
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=35533513; DOI=10.1016/j.scr.2022.102807; PMCID=PMC9366766
Masuma Akter, Hao-Chen Cui, Yi-Hsien Chen, Bao-Jin Ding;
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-2
Biological sample resources BioSamples; SAMEA12515777
Encyclopedic resources Wikidata; Q112929421
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5