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Cellosaurus SIGi001-A-4 (CVCL_EF85)

[Text version]
Cell line name SIGi001-A-4
Synonyms iPSC0028 MAPT P301L D4
Accession CVCL_EF85
Resource Identification Initiative To cite this cell line use: SIGi001-A-4 (RRID:CVCL_EF85)
Comments Population: Caucasian.
Omics: Genome sequenced.
Derived from sampling site: Cell type=Epithelial cell.
Sequence variations
  • Mutation; HGNC; 6893; MAPT; Simple_edited; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous; 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)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Cell line collections EBiSC; SIGi001-A-4
ECACC; 66540332
Cell line databases/resources hPSCreg; SIGi001-A-4
SKIP; SKIP002825
Biological sample resources BioSamples; SAMEA4448632
Encyclopedic resources Wikidata; Q54953459
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation13-Jul-2016
Last entry update23-Jun-2022
Version number10