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Cellosaurus (CVCL_RE95)

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Comments Population: Caucasian.
Omics: Genomics; Whole genome sequencing.
Cell type: Epithelial cell; CL=CL_0000066.
Sequence variations
  • Mutation; HGNC; 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=SIGi001-A-3).
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
Cross-references
Cell line databases/resources SKIP; SKIP002824
Encyclopedic resources Wikidata; Q54953458
Entry history
Entry creation13-Jul-2016
Last entry update10-Apr-2025
Version number15