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Cellosaurus BCMi004-A (CVCL_C9M3)

[Text version]
Cell line name BCMi004-A
Accession CVCL_C9M3
Resource Identification Initiative To cite this cell line use: BCMi004-A (RRID:CVCL_C9M3)
Comments From: Baylor College of Medicine; Houston; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; 6990; MECP2; Duplication; Zygosity=Hemizygous (PubMed=38154383).
Disease Lubs X-linked mental retardation syndrome (NCIt: C126747)
Proximal Xq28 duplication syndrome (ORDO: Orphanet_1762)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=38154383; DOI=10.1016/j.scr.2023.103292; PMCID=PMC10898976
Mendonca D., Cappuccio G., Sheppard J., Delacruz M., Bengtsson J., de Carvalho Fonseca C.M.B., Bajic A., Park H., Kim J.J., Jafar-Nejad P., Coquery C., Pehlivan D., Suter B., Maletic-Savatic M.
Generation of five induced pluripotent stem cell lines from patients with MECP2 duplication syndrome.
Stem Cell Res. 74:103292-103292(2024)

Cross-references
Cell line databases/resources hPSCreg; BCMi004-A
Biological sample resources BioSamples; SAMEA114594404
Encyclopedic resources Wikidata; Q123030779
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number4