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Cellosaurus SIGi001-A-5 (CVCL_EF86)

[Text version]
Cell line name SIGi001-A-5
Synonyms iPSC0028 MAPT P301S 1C9C4
Accession CVCL_EF86
Resource Identification Initiative To cite this cell line use: SIGi001-A-5 (RRID:CVCL_EF86)
Comments Population: Caucasian.
Omics: Genome sequenced.
Cell type: Epithelial cell; CL=CL_0000066.
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=Heterozygous; Note=By method not specified (EBiSC=SIGi001-A-5).
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)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; SIGi001-A-5
ECACC; 66540333 - Discontinued
Cell line databases/resources hPSCreg; SIGi001-A-5
SKIP; SKIP002826
Biological sample resources BioSamples; SAMEA4448708
Encyclopedic resources Wikidata; Q54953461
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number13