ID   BIONi010-C-72
AC   CVCL_D6RU
SY   APOE4Ch
DR   BioSamples; SAMEA115162597
DR   EBiSC; BIONi010-C-72
DR   hPSCreg; BIONi010-C-72
RX   PubMed=38703665;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; 613; APOE; Simple_edited; p.Cys130Arg (c.388T>C); ClinVar=VCV000017864; Zygosity=Homozygous; Note=ApoE4 allele. By CRISPR/Cas9 (PubMed=38703665).
CC   Sequence variation: Mutation; HGNC; 613; APOE; Simple_edited; p.Arg154Ser (c.460C>A) (R136S); ClinVar=VCV000017850; Zygosity=Homozygous; Note=Christchurch allele. By CRISPR/Cas9 (PubMed=38703665).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1E68 ! BIONi010-C
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38703665; DOI=10.1016/j.scr.2024.103414;
RA   Haidar M., Schmid B., Ruiz A., Ebneth A., Cabrera-Socorro A.;
RT   "Generation of three isogenic, gene-edited iPSC lines carrying the
RT   APOE-Christchurch mutation into the three common APOE variants:
RT   APOE2Ch, APOE3Ch and APOE4Ch.";
RL   Stem Cell Res. 77:103414-103414(2024).
//