| Cell line name | SIGi001-A-9 | |
|---|---|---|
| Synonyms | iPSC0028 MAPT P301S+Ex10+16/Clone 7H6A1 | |
| Accession | CVCL_EF90 | |
| Resource Identification Initiative | To cite this cell line use: SIGi001-A-9 (RRID:CVCL_EF90) | |
| Comments | Population: Caucasian. Omics: Genome sequenced. | |
| Sequence variations | Mutation; HGNC; 6893; MAPT; Simple_edited; p.Pro301Ser (c.901C>T) (P618S, c.1852C>T or P636S, c.1906C>T); ClinVar=VCV000014256; Zygosity=Homozygous; Note=By method not specified (EBiSC).Mutation; HGNC; 6893; MAPT; Simple_edited; c.1866+16C>T (IVS10+16C>T) (c.915+16C>T) (g.123819C>T); ClinVar=VCV000098222; Zygosity=Homozygous; Note=By method not specified (EBiSC). | |
| Disease | Frontotemporal dementia (NCIt: C84719) Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864) | |
| Species of origin | Homo sapiens (Human)
(NCBI Taxonomy: 9606)
| |
| Hierarchy | Parent: CVCL_EE38 (SIGi001-A) Children:
| |
| Sex of cell | Female | |
| Age at sampling | 24Y | |
| Category | Induced pluripotent stem cell | |
| Cross-references | ||
| Cell line collections | EBiSC; SIGi001-A-9
ECACC; 66540327 | |
| Cell line databases/resources | hPSCreg; SIGi001-A-9
SKIP; SKIP002830 | |
| Biological sample resources | BioSamples; SAMEA4447499 | |
| Other | Wikidata; Q54953468 | |
| Entry history | ||
| Entry creation | 13-Jul-2016 | |
| Last entry update | 20-May-2021 | |
| Version number | 10 | |