Titanovo Logo
Back to Cell Types

YCMi002-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: F7epi7

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_A1ND
SpeciesHomo sapiens (Human)

Disease Information

DiseaseCongenital factor VII deficiency

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleF7p.Gln426Ter (c.1276C>T)Heterozygous-PubMed=33038747
MutationSimpleF7p.Cys115Ter (c.345C>A)Heterozygous-PubMed=33038747

Publications

Generation of a human induced pluripotent stem cell line, YCMi002-A, from a Factor VII deficiency patient carrying F7 mutations.

Kim D.-H., Park C.-Y., Cho S.-R., Kim D.-W.

Stem Cell Res. 49:102026-102026(2020).

DOIPubMed