ID   BIONi010-C-71
AC   CVCL_D6RT
SY   APOE3Ch
DR   BioSamples; SAMEA115162593
DR   EBiSC; BIONi010-C-71
DR   hPSCreg; BIONi010-C-71
RX   PubMed=38703665;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; HGNC:613; APOE; Simple_edited; p.Arg130Cys (c.388C>T); Zygosity=Homozygous; Note=By CRISPR/Cas9. ApoE3 allele (PubMed=38703665).
CC   Sequence variation: Mutation; HGNC; HGNC:613; APOE; Simple_edited; p.Arg154Ser (c.460C>A) (R136S); ClinVar=VCV000017850; Zygosity=Homozygous; Note=By CRISPR/Ca9. Christchurch allele (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: 19-12-24; Version: 2
//
RX   PubMed=38703665; DOI=10.1016/j.scr.2024.103414;
RA   Haidar, Mansour
RA   Schmid, Benjamin
RA   Ruiz, Agustin
RA   Ebneth, Andreas
RA   Cabrera-Socorro, Alfredo
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).
//