ID   SIGi001-A-9
AC   CVCL_EF90
SY   iPSC0028 MAPT P301S+Ex10+16/Clone 7H6A1
DR   BioSamples; SAMEA4447499
DR   EBiSC; SIGi001-A-9
DR   ECACC; 66540327
DR   EGA; EGAS00001002755
DR   hPSCreg; SIGi001-A-9
DR   SKIP; SKIP002830
DR   Wikidata; Q54953468
CC   Population: Caucasian.
CC   Sequence variation: 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).
CC   Sequence variation: 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).
CC   Omics: Genomics; Whole genome sequencing.
CC   Discontinued: ECACC; 66540327; true.
CC   Cell type: Epithelial cell; CL=CL_0000066.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EE38 ! SIGi001-A
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 10-04-25; Version: 16
CH   CVCL_A7GT ! SIGi001-A-16
//