Cellosaurus cell line CSUi002-A (CVCL

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; 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:

Amelogenin	X,Y
CSF1PO	10,13
D2S1338	17,18
D3S1358	15,18
D5S818	10
D7S820	11
D8S1179	13,16
D13S317	9,12
D18S51	13,16
D19S433	16,17.2
D21S11	30,32.5
Penta D	9,13
TH01	6,8
TPOX	8,9
vWA	14,15

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; PMCID=PMC9366766
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 creation

20-May-2021

Last entry update

19-Dec-2024

Version number