Cellosaurus logo
expasy logo

Cellosaurus iPSC-TTNCys3892Ser het (CVCL_E6ZR)

[Text version]
Cell line name iPSC-TTNCys3892Ser het
Accession CVCL_E6ZR
Resource Identification Initiative To cite this cell line use: iPSC-TTNCys3892Ser het (RRID:CVCL_E6ZR)
Comments From: Centro Nacional de Investigaciones Cardiovasculares (CNIC); Madrid; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12403; TTN; Simple_edited; p.Cys3892Ser (c.11674T>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37253077).
Disease Dilated cardiomyopathy-1G (NCIt: C182078)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E6ZP (HDF-iPS-SV10)
Sex of cell Female
Age at sampling Adult
Category Induced pluripotent stem cell
Publications

PubMed=37253077; DOI=10.1161/CIRCULATIONAHA.122.062833
Dominguez F., Lalaguna L., Martinez-Martin I., Piqueras-Flores J., Rasmussen T.B., Zorio E., Giovinazzo G., Prados B., Ochoa J.P., Bornstein B., Gonzalez-Lopez E., Velazquez-Carreras D., Pricolo M.R., Gutierrez-Aguera F., Bernal J.A., Herrero-Galan E., Alegre-Cebollada J., Lara-Pezzi E., Garcia-Pavia P.
Titin missense variants as a cause of familial dilated cardiomyopathy.
Circulation 147:1711-1713(2023)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1