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Cellosaurus CRICKi008-A (CVCL_C5T0)

[Text version]
Cell line name CRICKi008-A
Synonyms iFCI006; NH13-0078
Accession CVCL_C5T0
Resource Identification Initiative To cite this cell line use: CRICKi008-A (RRID:CVCL_C5T0)
Comments From: The Francis Crick Institute Limited; London; United Kingdom.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Tyr198Ter (c.594C>G); Zygosity=Hemizygous (PubMed=36989620).
Disease X-linked centronuclear myopathy (NCIt: C118781)
X-linked centronuclear myopathy (ORDO: Orphanet_596)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6M
Category Induced pluripotent stem cell
Publications

PubMed=36989620; DOI=10.1016/j.scr.2023.103079
Devito L.G., Lionello V.M., Muntoni F., Tedesco F.S., Healy L.E.
Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM).
Stem Cell Res. 69:103079-103079(2023)

Cross-references
Cell line databases/resources hPSCreg; CRICKi008-A
Biological sample resources BioSamples; SAMEA112229690
Encyclopedic resources Wikidata; Q116048791
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4