ID   SIGi001-A-3
AC   CVCL_EF84
SY   iPSC0028 MAPT P301L C4
DR   BioSamples; SAMEA4448571
DR   EBiSC; SIGi001-A-3
DR   ECACC; 66540331
DR   EGA; EGAS00001002755
DR   hPSCreg; SIGi001-A-3
DR   SKIP; SKIP002824
DR   Wikidata; Q54953458
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple_edited; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous; Note=By method not specified (EBiSC=SIGi001-A-3).
CC   Omics: Genomics; Whole genome sequencing.
CC   Discontinued: ECACC; 66540331; 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
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