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Cellosaurus SIGi001-A-16 (CVCL_A7GT)

[Text version]

Cell line name SIGi001-A-16
Synonyms SIGi001-A-9 Bi-Allelic MAPT HA-tag
Accession CVCL_A7GT
Resource Identification Initiative To cite this cell line use: SIGi001-A-16 (RRID:CVCL_A7GT)
Comments Population: Caucasian.
Characteristics: Contains a HA-tag at the C-terminal of both alleles of MAPT (hPSCreg).
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=Homozygous; Note=By method not specified (hPSCreg).
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 (hPSCreg).
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_EF90 (SIGi001-A-9)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections ECACC; 66541215
Cell line databases/resources hPSCreg; SIGi001-A-16
Biological sample resources BioSamples; SAMEA6080815
Other Wikidata; Q107116926
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2