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Cellosaurus UKKi025-A (CVCL_LD42)

[Text version]
Cell line name UKKi025-A
Synonyms NP0135-1
Accession CVCL_LD42
Resource Identification Initiative To cite this cell line use: UKKi025-A (RRID:CVCL_LD42)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7577; MYH7; Simple; p.Arg719Gly (c.2156G>A); Zygosity=Heterozygous (EBiSC).
Disease Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_LD43 ! UKKi025-B
CVCL_LD44 ! UKKi025-C
Sex of cell Female
Age at sampling 40-44Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi025-A
ECACC; 66540491
Cell line databases/resources hPSCreg; UKKi025-A
Biological sample resources BioSamples; SAMEA17636668
Encyclopedic resources Wikidata; Q54990490
Entry history
Entry creation22-Aug-2017
Last entry update29-Jun-2023
Version number11