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Cellosaurus SIGi001-A-11 (CVCL_LE50)

[Text version]

Cell line name SIGi001-A-11
Synonyms IPSC0028 MAPT P301S+Ex10+16/Clone 7C6A4
Accession CVCL_LE50
Resource Identification Initiative To cite this cell line use: SIGi001-A-11 (RRID:CVCL_LE50)
Comments Population: Caucasian.
Omics: Genome sequenced.
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=Homozygous; Note=By method not specified (EBiSC).
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 (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
Cross-references
Cell line collections EBiSC; SIGi001-A-11
ECACC; 66540359
Cell line databases/resources hPSCreg; SIGi001-A-11
Biological sample resources BioSamples; SAMEA4451118
Other Wikidata; Q54953432
Entry history
Entry creation22-Aug-2017
Last entry update20-May-2021
Version number9