ID   GEMi022-A-2
AC   CVCL_E8Y1
SY   GN-JY02-01-008(PSEN1 c.313T>C)
DR   BioSamples; SAMEA116144572
DR   hPSCreg; GEMi022-A-2
CC   From: Shanghai Gemple Biotech Co., Ltd; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple_edited; p.Cys105Arg (c.313T>C); ClinVar=VCV002628372; Zygosity=Unspecified; Note=By CRISPR/Cas9 (hPSCreg=GEMi022-A-2).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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_E8Y0 ! GEMi022-A
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 14-08-25; Last updated: 14-08-25; Version: 1
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