ID   PENN165i-M2-21
AC   CVCL_EL65
SY   Penn165i-M2-21; iPS-M2-SeV21; TD-1 iPSC-2; TD-2-2; M2-21
DR   SKIP; SKIP005075
DR   WiCell; penn165i-m2-21
DR   Wikidata; Q54947152
RX   PubMed=25904599;
RX   PubMed=28330813;
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   From: Rader, Daniel James; University of Pennsylvania; Philadelphia; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:29; ABCA1; Simple; p.Lys531Asn (c.1593G>T); Zygosity=Heterozygous (PubMed=25904599; PubMed=28330813).
CC   Sequence variation: Mutation; HGNC; HGNC:29; ABCA1; Simple; p.Ser2046Arg (c.6138T>A); ClinVar=VCV002780158; Zygosity=Heterozygous (PubMed=25904599; PubMed=28330813).
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_EL57 ! PENN157i-M2-6
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 17
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RX   PubMed=25904599; DOI=10.1161/CIRCRESAHA.117.305860; PMCID=PMC4565503;
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).
//
RX   PubMed=28330813; DOI=10.1016/j.ebiom.2017.03.018; PMCID=PMC5405159;
RA   Bi X., Pashos E.E., Cuchel M., Lyssenko N.N., Hernandez M.,
RA   Picataggi A., McParland J., Yang W.-L., Liu Y., Yan R.-L., Yu C.,
RA   DerOhannessian S.L., Phillips M.C., Morrisey E.E., Duncan S.A.,
RA   Rader D.J.;
RT   "ATP-binding cassette transporter A1 deficiency in human induced
RT   pluripotent stem cell-derived hepatocytes abrogates HDL biogenesis
RT   and enhances triglyceride secretion.";
RL   EBioMedicine 18:139-145(2017).
//