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Cellosaurus BCMi006-A (CVCL_C9M5)

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Cell line name BCMi006-A
Accession CVCL_C9M5
Resource Identification Initiative To cite this cell line use: BCMi006-A (RRID:CVCL_C9M5)
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; 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 29Y
Category Induced pluripotent stem cell
Publications

PubMed=38154383; DOI=10.1016/j.scr.2023.103292; PMCID=PMC10898976
Danielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, Magdalena Delacruz, Jesse Bengtsson, Claudia Marcia Benedetto de Carvalho Fonseca, Aleksandar Bajic, Hyekyung Park, Jean J. Kim, Paymaan Jafar-Nejad, Christine Coquery ...Show all 14 authors... , Davut Pehlivan, Bernhard Suter, Mirjana Maletic-Savatic; Show fewer authors
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; BCMi006-A
Biological sample resources BioSamples; SAMEA114594408
Encyclopedic resources Wikidata; Q123030781
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number5