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Cellosaurus FMUFAHi001-A (CVCL_C0FU)

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Cell line name FMUFAHi001-A
Synonyms FSHD-DRQ01
Accession CVCL_C0FU
Resource Identification Initiative To cite this cell line use: FMUFAHi001-A (RRID:CVCL_C0FU)
Comments From: The First Affiliated Hospital, Fujian Medical University; Fuzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Unspecified; Note=D4Z4 repeat contraction (to 2 repeats) (PubMed=35093715).
Disease Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=35093715; DOI=10.1016/j.scr.2022.102678
Fu-Ze Zheng, Long Chen, Liang-Liang Qiu, Lin Lin, Xin Lin, Qi-Fang He, Li-Li Wang, Zhi-Xian Ye, Min-Ting Lin, Zhi-Qiang Wang;
Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1.
Stem Cell Res. 60:102678-102678(2022)

Cross-references
Cell line databases/resources hPSCreg; FMUFAHi001-A
Biological sample resources BioSamples; SAMEA9462435
Encyclopedic resources Wikidata; Q112929566
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6