| Cell line name | PFIZi017-A |
|---|---|
| Synonyms | BC142c7; RCi209 |
| Accession | CVCL_RF96 |
| Resource Identification Initiative | To cite this cell line use: PFIZi017-A (RRID:CVCL_RF96) |
| Comments | From: Pfizer, Inc. Derived from sampling site: Peripheral blood. |
| Sequence variations | Mutation; HGNC; 10585; SCN1A; Simple; p.Cys1741Ser (c.5222G>C) (C1730S); ClinVar=VCV000577486; Zygosity=Heterozygous (EBiSC). |
| Disease | Early infantile epileptic encephalopathy 6 (NCIt: C147071) Dravet syndrome (ORDO: Orphanet_33069) |
| Species of origin | Homo sapiens (Human)
(NCBI Taxonomy: 9606)
|
| Sex of cell | Male |
| Age at sampling | 25-29Y |
| Category | Induced pluripotent stem cell |
| Cross-references | |
| Cell line collections | EBiSC; PFIZi017-A |
| Cell line databases/resources | hPSCreg; PFIZi017-A |
| Biological sample resources | BioSamples; SAMEA4458848 |
| Other | Wikidata; Q54947272 |
| Entry history | |
| Entry creation | 05-Mar-2018 |
| Last entry update | 20-May-2021 |
| Version number | 6 |