PMID: 25904599

Zhang H, Xue C, Shah R, Bermingham K, Hinkle CC, Li W, Rodrigues A, Tabita-Martinez J, Millar JS, Cuchel M, Pashos EE, Liu Y, Yan R, Yang W, Gosai SJ, VanDorn D, Chou ST, Gregory BD, Morrisey EE, Li M, Rader DJ, Reilly MP
Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease.
Circ Res. 2015 Jun 19;117(1):17-28. doi: 10.1161/CIRCRESAHA.117.305860. Epub 2015 Apr 22., [PubMed]
Sentences
No. Mutations Sentence Comment
127 ABCA1 p.Lys531Asn
X
ABCA1 p.Lys531Asn 25904599:127:69
status: NEW
view ABCA1 p.Lys531Asn details
ABCA1 p.Ser2046Arg
X
ABCA1 p.Ser2046Arg 25904599:127:62
status: NEW
view ABCA1 p.Ser2046Arg details
ABCA1 p.Glu1005*
X
ABCA1 p.Glu1005* 25904599:127:105
status: NEW
view ABCA1 p.Glu1005* details
ABCA1 p.Glu1005*
X
ABCA1 p.Glu1005* 25904599:127:112
status: NEW
view ABCA1 p.Glu1005* details
 We recruited 2 TD individuals, TD-1, compound heterozygote at S2046R/K531N, and TD-2, homozygous for the E1005X/E1005X truncation mutation. Login to comment 128 ABCA1 p.Lys531Asn
X
ABCA1 p.Lys531Asn 25904599:128:37
status: NEW
view ABCA1 p.Lys531Asn details
 The sibling of TD-1, heterozygous at K531N (hetero-1), was recruited as a family comparator.Age, race, and sex-matched healthy subjects, control-1 for TD-1, and control-2 for TD-2 were also recruited. Login to comment