ID   BIONi010-C-4
AC   CVCL_II83
SY   BIONi010-C ApoE E4/E4 #B44 P27
DR   BioSamples; SAMEA4452060
DR   EBiSC; BIONi010-C-4
DR   ECACC; 66540366
DR   EGA; EGAS00001002755
DR   hPSCreg; BIONi010-C-4
DR   SKIP; SKIP002853
DR   Wikidata; Q54796774
RX   PubMed=30660866;
RX   PubMed=32971461;
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=Hemizygous; Note=ApoE4 allele. By CRISPR/Cas9. The second allele is disrupted by a 5.4 kb insertion from the selection plasmid (PubMed=30660866; PubMed=32971461).
CC   Omics: Genome sequenced.
CC   Discontinued: ECACC; 66540366; true.
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: 01-12-16; Last updated: 30-01-24; Version: 14
//
RX   PubMed=30660866; DOI=10.1016/j.scr.2018.11.010;
RA   Schmid B., Prehn K.R., Nimsanor N., Aldana Garcia B.I., Poulsen U.B.,
RA   Jorring I., Rasmussen M.A., Clausen C., Mau-Holzmann U.A.,
RA   Ramakrishna S., Muddashetty R.S., Steeg R., Bruce K., Mackintosh P.,
RA   Ebneth A., Holst B., Cabrera-Socorro A.;
RT   "Generation of a set of isogenic, gene-edited iPSC lines homozygous
RT   for all main APOE variants and an APOE knock-out line.";
RL   Stem Cell Res. 34:101349-101349(2019).
//
RX   PubMed=32971461; DOI=10.1016/j.scr.2020.102005;
RA   Schmid B., Prehn K.R., Nimsanor N., Aldana Garcia B.I., Poulsen U.B.,
RA   Jorring I., Rasmussen M.A., Clausen C., Mau-Holzmann U.A.,
RA   Ramakrishna S., Muddashetty R.S., Steeg R., Bruce K., Mackintosh P.,
RA   Ebneth A., Holst B., Cabrera-Socorro A.;
RT   "Corrigendum to 'Generation of a set of isogenic, gene-edited iPSC
RT   lines homozygous for all main APOE variants and an APOE knock-out
RT   line' [Stem Cell Res. 34/1873-5061 (2019) 101349-55].";
RL   Stem Cell Res. 48:102005-102005(2020).
//