ID   SIGi001-A-5
AC   CVCL_EF86
SY   iPSC0028 MAPT P301S 1C9C4
DR   BioSamples; SAMEA4448708
DR   EBiSC; SIGi001-A-5
DR   ECACC; 66540333
DR   EGA; EGAS00001002755
DR   hPSCreg; SIGi001-A-5
DR   SKIP; SKIP002826
DR   Wikidata; Q54953461
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=Heterozygous; Note=By method not specified (EBiSC=SIGi001-A-5).
CC   Omics: Genomics; Whole genome sequencing.
CC   Discontinued: ECACC; 66540333; 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: 15
//