• Mutation; HGNC; HGNC:613; APOE; Simple_edited; p.Arg130Cys (c.388C>T); Zygosity=Hemizygous; Note=By CRISPR/Cas9. ApoE3 allele. The second allele is disrupted by a 3.4 kb insertion from the selection plasmid (PubMed=30660866; PubMed=32971461).
  

PubMed=30660866; DOI=10.1016/j.scr.2018.11.010
Schmid B., Prehn K.R., Nimsanor N., Aldana Garcia B.I., Poulsen U.B., Jorring I., Rasmussen M.A., Clausen C., Mau-Holzmann U.A., Ramakrishna S., Muddashetty R.S., Steeg R., Bruce K., Mackintosh P., Ebneth A., Holst B., Cabrera-Socorro A.
Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line.
Stem Cell Res. 34:101349-101349(2019)

PubMed=32971461; DOI=10.1016/j.scr.2020.102005
Schmid B., Prehn K.R., Nimsanor N., Aldana Garcia B.I., Poulsen U.B., Jorring I., Rasmussen M.A., Clausen C., Mau-Holzmann U.A., Ramakrishna S., Muddashetty R.S., Steeg R., Bruce K., Mackintosh P., Ebneth A., Holst B., Cabrera-Socorro A.
Corrigendum to 'Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line' [Stem Cell Res. 34/1873-5061 (2019) 101349-55].
Stem Cell Res. 48:102005-102005(2020)