ID   SIGi001-A-12
AC   CVCL_LL41
SY   iPSC0028 BiAllelic MAPT_Ex10+16T/Clone 1F5-D12
DR   BioSamples; SAMEA104237570
DR   EBiSC; SIGi001-A-12
DR   ECACC; 66540611
DR   hPSCreg; SIGi001-A-12
DR   Wikidata; Q54953434
CC   Population: Caucasian.
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-12).
CC   Discontinued: ECACC; 66540611; 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: 15-11-17; Last updated: 30-01-24; Version: 13
//