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Cellosaurus INEUi004-A (CVCL_C9LJ)

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Cell line name INEUi004-A
Synonyms FHL1-V
Accession CVCL_C9LJ
Resource Identification Initiative To cite this cell line use: INEUi004-A (RRID:CVCL_C9LJ)
Comments From: Instituto de Neurociencias; Buenos Aires; Argentina.
Population: Latino or Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3702; FHL1; Simple; p.Cys126Tyr (c.377G>A); Zygosity=Heterozygous (PubMed=38244535).
Disease X-Linked dominant scapuloperoneal myopathy (NCIt: C206103)
X-linked scapuloperoneal muscular dystrophy (ORDO: Orphanet_431272)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=38244535; DOI=10.1016/j.scr.2024.103307
Federico Zabalegui, Sheila Lucia Castaneda, Guadalupe Amin, Carolina Belli, Santiago Gabriel Miriuka, Lucia Natalia Moro;
Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy.
Stem Cell Res. 75:103307-103307(2024)

Cross-references
Cell line databases/resources hPSCreg; INEUi004-A
Biological sample resources BioSamples; SAMEA115040735
Encyclopedic resources Wikidata; Q123032705
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number5