ID   PENN157i-M2-6
AC   CVCL_EL57
SY   Penn157i-M2-6; iPS-M2-SeV6; TD-1 iPSC-1
DR   SKIP; SKIP005076
DR   WiCell; penn157i-m2-6
DR   Wikidata; Q54947144
RX   PubMed=25904599;
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 29; ABCA1; Simple; p.Lys531Asn; Zygosity=Heterozygous (PubMed=25904599).
CC   Sequence variation: Mutation; HGNC; 29; ABCA1; Simple; p.Ser2046Arg; Zygosity=Heterozygous (PubMed=25904599).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85182; Tangier disease
DI   ORDO; Orphanet_31150; Tangier disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EL65 ! PENN165i-M2-21
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 29-06-23; Version: 13
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RX   PubMed=25904599; DOI=10.1161/CIRCRESAHA.117.305860;
RA   Zhang H.-R., Xue C.-Y., Shah R., Bermingham K., Hinkle C.C., Li W.-J.,
RA   Rodrigues A., Tabita-Martinez J., Millar J.S., Cuchel M., Pashos E.E.,
RA   Liu Y., Yan R.-L., Yang W.-L., Gosai S.J., VanDorn D., Chou S.T.,
RA   Gregory B.D., Morrisey E.E., Li M.-Y., Rader D.J., Reilly M.P.;
RT   "Functional analysis and transcriptomic profiling of iPSC-derived
RT   macrophages and their application in modeling Mendelian disease.";
RL   Circ. Res. 117:17-28(2015).
//