ID   CSBZZUi001-A
AC   CVCL_E3TU
SY   CSBZZU_PS1_001
DR   BioSamples; SAMEA115444276
DR   hPSCreg; CSBZZUi001-A
RX   PubMed=38968760;
CC   From: The first affiliated Hospital of Zhengzhou University; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Phe237Leu (c.709T>C); ClinVar=VCV000098072; Zygosity=Heterozygous (PubMed=38968760).
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)
SX   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38968760; DOI=10.1016/j.scr.2024.103486;
RA   Meng X.-Y., Sun H.-F., Zhang Y.-J., Li W.-X., Wang D.-D., Liu D.-H.,
RA   Li S.-M., Wu Y., Li J.-K., Liu X.-H., Liu P.-P., Yang R.-Z., Li S.-A.,
RA   Kang J.-S.;
RT   "Generation of an induced pluripotent stem cell line (CSBZZUi001-A)
RT   from a female Alzheimer's patient carrying the PSEN1 709 T > C
RT   heterozygous mutation.";
RL   Stem Cell Res. 79:103486-103486(2024).
//