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HGADFN271

RRID:CVCL_1Y98

Organism

Homo sapiens

Disease

Progeria

Comments

Part of: Progeria Research Foundation cell lines. Sequence variation: Heterozygous for LMNA p.Gly608Gly (c.1824C>T); silent change that creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (PRF). DT Created: 22-09-15; Last updated: 07-09-18; Version: 5

Proper Citation

RRID:CVCL_1Y98

Category

Finite cell line DT Created: 22-09-15; Last updated: 07-09-18; Version: 5

Sex

DT Created: 22-09-15; Last updated: 07-09-18; Version: 5

Synonyms

DT Created: 22-09-15, Last updated: 07-09-18, Version: 5

Cross References

Wikidata; Q54885955 DT Created: 22-09-15; Last updated: 07-09-18; Version: 5

Hierarchy

DT Created: 22-09-15; Last updated: 07-09-18; Version: 5

Originate from Same Individual

DT Created: 22-09-15; Last updated: 07-09-18; Version: 5