Cellosaurus A53T-1A CORR28 (CVCL_E3CE)
Cell line name | A53T-1A CORR28 |
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Synonyms | CORR28 (A53T-1A) |
Accession | CVCL_E3CE |
Resource Identification Initiative | To cite this cell line use: A53T-1A CORR28 (RRID:CVCL_E3CE) |
Comments | Population: Caucasian; Italian. Characteristics: Transposed with a piggyBac-rtTA(TRE4G)-NGN2-T2A-PuroR-IRES-SNAP-tag construct (PubMed=35688132). Genetic integration: Method=PiggyBac transposition; Gene=HGNC; HGNC:13805; NEUROG2. Genetic integration: Method=PiggyBac transposition; Gene=HGNC; HGNC:7059; MGMT (Note=With p.Gly180_Asn207del and 19 mutations = SNAP-tag). Genetic integration: Method=PiggyBac transposition; Gene=UniProtKB; Q9QNF7; Human herpesvirus 1 TK. Genetic integration: Method=PiggyBac transposition; Gene=UniProtKB; P33967; B.cereus Bsr. Genetic integration: Method=PiggyBac transposition; Gene=UniProtKB; P13249; S.alboniger pac (PuroR). Donor information: Established from a Contursi kindred patient. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620. |
Sequence variations |
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Disease | Parkinson disease 1, autosomal dominant (NCIt: C198602) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602) |
Species of origin | Homo sapiens (Human) (NCBI Taxonomy: 9606) |
Hierarchy | Parent: CVCL_E3C8 (A53T-1A) |
Sex of cell | Female |
Age at sampling | 49Y |
Category | Induced pluripotent stem cell |
Publications | PubMed=35688132; DOI=10.1016/j.cell.2022.05.008; PMCID=PMC9394447 PubMed=39079530; DOI=10.1016/j.neuron.2024.06.002; PMCID=PMC11377155 |
Entry history | |
Entry creation | 10-Sep-2024 |
Last entry update | 19-Dec-2024 |
Version number | 2 |