Cellosaurus CSUi002-A-1 (CVCL_B0GP)
| 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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620. |
| Sequence variations |
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| 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 |
| Cross-references | |
| Cell line databases/resources | hPSCreg; CSUi002-A-1 |
| Encyclopedic resources | Wikidata; Q108820088 |
| Entry history | |
| Entry creation | 23-Sep-2021 |
| Last entry update | 29-Jun-2023 |
| Version number | 5 |