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Cellosaurus UKEi001-A-1 (CVCL_C9HF)

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Cell line name UKEi001-A-1
Synonyms CRYABhom
Accession CVCL_C9HF
Resource Identification Initiative To cite this cell line use: UKEi001-A-1 (RRID:CVCL_C9HF)
Comments From: University Medical Center Hamburg-Eppendorf; Hamburg; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2389; CRYAB; Simple_edited; p.Arg120Gly (c.358A>G); ClinVar=VCV000016953; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37633027).
  • Mutation; HGNC; HGNC:2389; CRYAB; Simple_edited; p.Arg120Arg (c.360G>A); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37633027).
Disease Myofibrillar myopathy 2 (NCIt: C206516)
Alpha-B crystallin-related late-onset myopathy (ORDO: Orphanet_399058)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A8PR (UKEi001-A)
Sex of cell Female
Age at sampling 60-64Y
Category Induced pluripotent stem cell
Publications

PubMed=37633027; DOI=10.1016/j.scr.2023.103188
Niels Pietsch, Jian-Cheng Cheng, Antonietta Fazio, Leonie Ewald, Erda Alizoti, Elisabeth Kramer, Ellen Orthey, Lucie Carrier, Sonia R. Singh;
Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line.
Stem Cell Res. 71:103188-103188(2023)

Cross-references
Cell line databases/resources hPSCreg; UKEi001-A-1
Biological sample resources BioSamples; SAMEA112647719
Encyclopedic resources Wikidata; Q123033710
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4