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Cellosaurus UKKi031-C (CVCL_RM76)

[Text version]
Cell line name UKKi031-C
Synonyms NP0138-31B
Accession CVCL_RM76
Resource Identification Initiative To cite this cell line use: UKKi031-C (RRID:CVCL_RM76)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11949; TNNT2; Simple; p.Arg94Leu (c.281G>T); ClinVar=VCV000043629; Zygosity=Heterozygous (EBiSC=UKKi031-C).
Disease Familial hypertrophic cardiomyopathy type 2 (NCIt: C142892)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RM74 ! UKKi031-A
CVCL_RM75 ! UKKi031-B
Sex of cell Female
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; UKKi031-C
ECACC; 66540880 - Discontinued
Cell line databases/resources hPSCreg; UKKi031-C
Biological sample resources BioSamples; SAMEA104494416
Encyclopedic resources Wikidata; Q54990529
Entry history
Entry creation05-Mar-2018
Last entry update30-Jan-2024
Version number11