Cellosaurus cell line PENN165i-M2-21 (CVCL

Cellosaurus PENN165i-M2-21 (CVCL_EL65)

Cross-references
Cell line name	PENN165i-M2-21
Synonyms	Penn165i-M2-21; iPS-M2-SeV21; TD-1 iPSC-2; TD-2-2; M2-21
Accession	CVCL_EL65
Resource Identification Initiative	To cite this cell line use: PENN165i-M2-21 (RRID:CVCL_EL65)
Comments	Part of: Next Generation Genetic Association studies (Next Gen) program cell lines. From: Rader, Daniel James; University of Pennsylvania; Philadelphia; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:29; ABCA1; Simple; p.Lys531Asn (c.1593G>T); Zygosity=Heterozygous (PubMed=25904599; PubMed=28330813). Mutation; HGNC; HGNC:29; ABCA1; Simple; p.Ser2046Arg (c.6138T>A); ClinVar=VCV002780158; Zygosity=Heterozygous (PubMed=25904599; PubMed=28330813).
Disease	Tangier disease (NCIt: C85182) Tangier disease (ORDO: Orphanet_31150)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_EL57 ! PENN157i-M2-6
Sex of cell	Male
Age at sampling	21Y
Category	Induced pluripotent stem cell
Publications	PubMed=25904599; DOI=10.1161/CIRCRESAHA.117.305860; PMCID=PMC4565503 Han-Rui Zhang, Chen-Yi Xue, Rhia Shah, Kate Bermingham, Christine C. Hinkle, Wen-Jun Li, Amrith Rodrigues, Jennifer Tabita-Martinez, John S. Millar, Marina Cuchel, Evanthia E. Pashos ...Show all 22 authors... , Ying Liu, Rui-Lan Yan, Wen-Li Yang, Sager J. Gosai, Daniel VanDorn, Stella T. Chou, Brian D. Gregory, Edward E. Morrisey, Ming-Yao Li, Daniel James Rader, Muredach Patrick Reilly; Show fewer authors Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease. Circ. Res. 117:17-28(2015) PubMed=28330813; DOI=10.1016/j.ebiom.2017.03.018; PMCID=PMC5405159 Xin Bi, Evanthia E. Pashos, Marina Cuchel, Nicholas N. Lyssenko, Mayda Hernandez, Antonino Picataggi, James McParland, Wen-Li Yang, Ying Liu, Rui-Lan Yan, Christopher Yu ...Show all 16 authors... , Stephanie L. DerOhannessian, Michael C. Phillips, Edward E. Morrisey, Stephen Alexander Duncan, Daniel James Rader; Show fewer authors ATP-binding cassette transporter A1 deficiency in human induced pluripotent stem cell-derived hepatocytes abrogates HDL biogenesis and enhances triglyceride secretion. EBioMedicine 18:139-145(2017)
Cell line collections (Providers)	WiCell; penn165i-m2-21
Cell line databases/resources	SKIP; SKIP005075
Encyclopedic resources	Wikidata; Q54947152
Entry history
Entry creation	26-Sep-2016
Last entry update	10-Apr-2025
Version number	17