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Cellosaurus MRIi018-A (CVCL_A8MP)

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Cell line name MRIi018-A
Synonyms HLHS_375
Accession CVCL_A8MP
Resource Identification Initiative To cite this cell line use: MRIi018-A (RRID:CVCL_A8MP)
Comments From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
Population: Caucasian.
Omics: Genomics; Whole exome sequencing.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:944; ADGRB2; Simple; p.Gly267Asp (c.800G>A); Zygosity=Unspecified; Note=De novo mutation (hPSCreg=MRIi018-A).
  • Mutation; HGNC; HGNC:28338; DENND5B; Simple; p.Lys799Arg (c.2396A>G); Zygosity=Unspecified; Note=De novo mutation (hPSCreg=MRIi018-A).
  • Mutation; HGNC; HGNC:26011; SYBU; Simple; p.Pro93Leu (c.278C>A); Zygosity=Unspecified; Note=De novo mutation (hPSCreg=MRIi018-A).
Disease Hypoplastic left heart syndrome (NCIt: C98894)
Hypoplastic left heart syndrome (ORDO: Orphanet_2248)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; MRIi018-A
Biological sample resources BioSamples; SAMEA8944460
Encyclopedic resources Wikidata; Q108820967
Entry history
Entry creation23-Sep-2021
Last entry update10-Apr-2025
Version number7