ID   STBCi014-B-1
AC   CVCL_C1WV
SY   AZi324-A-1
DR   hPSCreg; STBCi014-B-1
DR   Wikidata; Q114313046
CC   From: AstraZeneca; Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple_corrected; c.338+1delG (p.Leu113_Ile114insThr) (int4del); ClinVar=VCV000098013; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=STBCi014-B-1).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_RB57 ! STBCi014-B
SX   Female
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//