ID   SIGi001-A-16
AC   CVCL_A7GT
SY   SIGi001-A-9 Bi-Allelic MAPT HA-tag; BIONi039-A-16
DR   BioSamples; SAMEA6080815
DR   EBiSC; SIGi001-A-16
DR   ECACC; 66541215
DR   hPSCreg; SIGi001-A-16
DR   Wikidata; Q107116926
CC   Population: Caucasian.
CC   Characteristics: Contains a HA tag at the C-terminal of both alleles of MAPT (hPSCreg=SIGi001-A-16).
CC   Sequence variation: Mutation; HGNC; 6893; MAPT; Simple_edited; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Homozygous; Note=By method not specified (hPSCreg=SIGi001-A-16).
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 (hPSCreg=SIGi001-A-16).
CC   Discontinued: ECACC; 66541215; 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_EF90 ! SIGi001-A-9
SX   Female
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 8
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