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Cellosaurus iPSC-TTNCys3892Ser hom (CVCL_E6ZS)

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Cell line name iPSC-TTNCys3892Ser hom
Accession CVCL_E6ZS
Resource Identification Initiative To cite this cell line use: iPSC-TTNCys3892Ser hom (RRID:CVCL_E6ZS)
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=Homozygous; 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
Fernando Dominguez, Laura Lalaguna, Ines Martinez-Martin, Jesus Piqueras-Flores, Torsten Bloch Rasmussen, Esther Zorio, Giovanna Giovinazzo, Belen Prados, Juan Pablo Ochoa, Belen Bornstein, Esther Gonzalez-Lopez ...Show all 19 authors... , Diana Velazquez-Carreras, Maria Rosaria Pricolo, Francisco Gutierrez-Aguera, Juan Antonio Bernal, Elias Herrero-Galan, Jorge Alegre-Cebollada, Enrique Lara-Pezzi, Pablo Garcia-Pavia; Show fewer authors
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