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Cellosaurus CSUi002-A (CVCL_A6XJ)
[Text version]
| Cell line name |
CSUi002-A
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| Synonyms |
iPSC-DYT1-#17
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| Accession |
CVCL_A6XJ
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| Resource Identification Initiative |
To cite this cell line use: CSUi002-A (RRID:CVCL_A6XJ) |
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| Comments |
From: Central South University; Changsha; China.
Population: Caucasian.
Derived from sampling site: Skin. Cell type=Fibroblast.
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| Sequence variations |
- Mutation; HGNC; 3098; TOR1A; Simple; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Heterozygous (PubMed=33706202).
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| Disease |
Autosomal dominant torsion dystonia 1 (NCIt: C118780)
Early-onset generalized limb-onset dystonia (ORDO: Orphanet_256)
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606)
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| Hierarchy |
Children:
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| Sex of cell |
Male
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| Age at sampling |
30Y
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| Category |
Induced pluripotent stem cell
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| 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 |
Run an STR similarity search on this cell line |
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| 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) |
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| Cross-references |
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| Cell line databases/resources |
hPSCreg; CSUi002-A
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| Biological sample resources |
BioSamples; SAMEA7976393
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| Encyclopedic resources |
Wikidata; Q107114730
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| Entry history |
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| Entry creation | 20-May-2021 |
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| Last entry update | 23-Jun-2022 |
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| Version number | 4 |
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