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Cellosaurus SIGi001-A-9 (CVCL_EF90)

[Text version]
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: Genomics; Whole genome sequencing.
Cell type: Epithelial cell; CL=CL_0000066.
Sequence variations
  • Mutation; HGNC; 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=SIGi001-A-9).
  • Mutation; HGNC; HGNC:6893; MAPT; Simple_edited; c.1920+16C>T (c.2091+16C>T) (c.1866+16C>T) (c.915+16C>T) (c.828+16C>T) (IVS10+16C>T); ClinVar=VCV000098222; Zygosity=Homozygous; Note=By method not specified (EBiSC=SIGi001-A-9).
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:
CVCL_A7GT (SIGi001-A-16)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) EBiSC; SIGi001-A-9
ECACC; 66540327 - Discontinued
Cell line databases/resources hPSCreg; SIGi001-A-9
SKIP; SKIP002830
Biological sample resources BioSamples; SAMEA4447499
Encyclopedic resources Wikidata; Q54953468
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation13-Jul-2016
Last entry update10-Apr-2025
Version number16