ID   ND50098
AC   CVCL_RY40
DR   NHCDR; ND50098
DR   Wikidata; Q54930326
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple_corrected; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=ND50098).
CC   Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RH40 ! ND50046
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
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