IISHDOi006-A

Registration Summary:

A P E C

DOA2259-FiPS4F-8

The cell line is not submitted yet.

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General

Cell Line
hPSCreg name	IISHDOi006-A
Cite as:	IISHDOi006-A (RRID:CVCL_XI73)
Alternative name(s)	DOA2259-FiPS4F-8
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	1st August 2019
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Provider
Generator	Instituto de Investigación Sanitaria Hospital 12 de Octubre, i+12 (IISHDO)
External Databases
Cellosaurus	CVCL_XI73
Wikidata	Q94315438
General Information
Publications	Cerrada V et al. Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys. Stem cell research. 2019 Oct;40:101566. Arroyave F et al. Diabetes Mellitus Is a Chronic Disease that Can Benefit from Therapy with Induced Pluripotent Stem Cells. International journal of molecular sciences. 2020 Nov 18;21(22). García-López M et al. Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches. Genes. 2021 Jan 18;12(1). McKnight CL et al. Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?. International journal of molecular sciences. 2021 Jul 20;22(14). García-López Marta et al. Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene. International Journal of Molecular Sciences. 2024-06-30. Yang Wenke et al. Transcriptome analyses reveal molecular mechanisms of novel compound heterozygous ACO2 variants causing infantile cerebellar retinal degeneration. Frontiers in Cellular Neuroscience. 2024-11-12.

hIPSC Derivation

General