Cellosaurus cell line SIGi001-A-11 (CVCL

Cross-references
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. 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-11). 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-11).
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 (Providers)	EBiSC; SIGi001-A-11 ECACC; 66540359 - Discontinued
Cell line databases/resources	hPSCreg; SIGi001-A-11
Biological sample resources	BioSamples; SAMEA4451118
Encyclopedic resources	Wikidata; Q54953432
Sequence databases	EGA; EGAS00001002755
Entry history
Entry creation	22-Aug-2017
Last entry update	19-Dec-2024
Version number	14