ID   SIGi001-A-8
AC   CVCL_EF89
SY   iPSC0028 MAPT P301S+Ex10+16/Clone 7D11A7
DR   BioSamples; SAMEA4448777
DR   EBiSC; SIGi001-A-8
DR   ECACC; 66540335
DR   EGA; EGAS00001002755
DR   hPSCreg; SIGi001-A-8
DR   SKIP; SKIP002829
DR   Wikidata; Q54953467
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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-8).
CC   Sequence variation: 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=SIGi001-A-8).
CC   Omics: Genome sequenced.
CC   Discontinued: ECACC; 66540335; 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: 30-01-24; Version: 14
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