ABCA1 c.3013G>T ;(p.E1005*)

Variant ID: 9-107582298-C-A

NM_005502.3(ABCA1):c.3013G>T;(p.E1005*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders
Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á
Publication Date: 2021-12

Variant appearance in text: ABCA1: E1005X
PubMed Link: 34241766
Variant Present in the following documents:
  • 11154_2021_9671_MOESM1_ESM.pdf
View BVdb publication page



iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery.

Frontiers In Medicine
Corbett, James L JL; Duncan, Stephen A SA
Publication Date: 2019

Variant appearance in text: ABCA1: E1005X
PubMed Link: 31803747
Variant Present in the following documents:
  • Main text
  • fmed-06-00265.pdf
View BVdb publication page



ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion.

Ebiomedicine
Bi, Xin X; Pashos, Evanthia E EE; Cuchel, Marina M; Lyssenko, Nicholas N NN; Hernandez, Mayda M; Picataggi, Antonino A; McParland, James J; Yang, Wenli W; Liu, Ying Y; Yan, Ruilan R; Yu, Christopher C; DerOhannessian, Stephanie L SL; Phillips, Michael C MC; Morrisey, Edward E EE; Duncan, Stephen A SA; Rader, Daniel J DJ
Publication Date: 2017-04

Variant appearance in text: ABCA1: E1005X
PubMed Link: 28330813
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page