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Cellosaurus UKKi031-A (CVCL_RM74)

[Text version]

Cell line name UKKi031-A
Synonyms NP0138-8B
Accession CVCL_RM74
Resource Identification Initiative To cite this cell line use: UKKi031-A (RRID:CVCL_RM74)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 11949; TNNT2; Simple; p.Arg94Leu (c.281G>T); ClinVar=VCV000043629; Zygosity=Heterozygous (EBiSC).
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_RM75 ! UKKi031-B
CVCL_RM76 ! UKKi031-C
Sex of cell Female
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Cell line collections EBiSC; UKKi031-A
ECACC; 66540878
Cell line databases/resources hPSCreg; UKKi031-A
Biological sample resources BioSamples; SAMEA104494413
Encyclopedic resources Wikidata; Q54990511
Entry history
Entry creation05-Mar-2018
Last entry update20-May-2021
Version number8