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Cellosaurus iPSC 09-24 (CVCL_9S73)

[Text version]
Cell line name iPSC 09-24
Synonyms iPS0924#6
Accession CVCL_9S73
Resource Identification Initiative To cite this cell line use: iPSC 09-24 (RRID:CVCL_9S73)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain.
Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1480; CAPN3; Simple; c.1782+1072G>C; ClinVar=VCV000946832; Zygosity=Heterozygous (BNLC).
  • Mutation; HGNC; 1480; CAPN3; Simple; p.Arg788Serfs*14 (c.2362_2363delAGinsTCATCT); ClinVar=VCV000017618; Zygosity=Heterozygous (BNLC).
Disease Limb-girdle muscular dystrophy type 2A (NCIt: C142079)
Autosomal recessive limb-girdle muscular dystrophy type 2A (ORDO: Orphanet_267)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/55/Caracteristicas%20-%20Solicitud_iPS0924_6-m.pdf
Cross-references
Encyclopedic resources Wikidata; Q54898193
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number14