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Article

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.

PloS one - 1 Jan 2015

Epsztejn-Litman Silvina, Cohen-Hadad Yaara, Aharoni Shira, Altarescu Gheona, Renbaum Paul, Levy-Lahad Ephrat, Schonberger Oshrat, Eldar-Geva Talia, Zeligson Sharon, Eiges Rachel

Abstract excerpt

We report on the derivation of a diploid 46(XX) human embryonic stem cell (HESC) line that is homozygous for the common deletion associated with Spinal muscular atrophy type 1 (SMA) from a pathenogenetic embryo. By characterizing the methylation status of three different imprinted loci (MEST, SNRPN and H19), monitoring the expression of two parentally imprinted genes (SNRPN and H19) and carrying out genome-wide...

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Identifiers

PMID: 26473610
DOI: 10.1371/journal.pone.0138893
PMCID: PMC4608834

Genes

SNRPN
MEST
PGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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