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   hPSCreg; SIGi001-A-9
DR   SKIP; SKIP002830
DR   Wikidata; Q54953468
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=Homozygous; Note=By method not specified (EBiSC).
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).
CC   Omics: Genome sequenced.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_EE38 ! SIGi001-A
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 20-05-21; Version: 10
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