ID   AG25367
AC   CVCL_LE07
SY   AG25367*B
DR   Coriell; AG25367
DR   Wikidata; Q54748624
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (Coriell=AG25367).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_T877 ! AG07768
SX   Female
AG   30Y6M
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 19-12-24; Version: 12
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