ID   AG25370
AC   CVCL_LE08
SY   AG25370*B; AG25370*D
DR   Coriell; AG25370
DR   Wikidata; Q54748625
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:9509; PSEN2; Simple; p.Asn141Ile (c.422A>T); ClinVar=VCV000008845; Zygosity=Heterozygous (Coriell=AG25370).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123413; Alzheimer's disease 4
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_T872 ! AG09908
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 12
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