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Article

Conditional deletion of SMN in cell culture identifies functional SMN alleles.

Human molecular genetics - 1 Nov 2020

Blatnik Anton J, McGovern Vicki L, Le Thanh T, Iyer Chitra C, Kaspar Brian K, Burghes Arthur H M

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by mutation or deletion of survival motor neuron 1 (SMN1) and retention of SMN2 leading to SMN protein deficiency. We developed an immortalized mouse embryonic fibroblast (iMEF) line in which full-length wild-type Smn (flwt-Smn) can be conditionally deleted using Cre recombinase. iMEFs lacking flwt-Smn are not viable. We tested the SMA patient SMN1 missense mutation alleles...

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Share to Cell Survival
Share to Fibroblasts
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Mutation, Missense

Share to Ribonucleoproteins, Small Nuclear

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

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Identifiers

PMID: 33075805
DOI: 10.1093/hmg/ddaa229
PMCID: PMC7946624

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