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Cellosaurus AG28462 (CVCL_C7PE)

[Text version]
Cell line name AG28462
Synonyms AG28462*B
Accession CVCL_C7PE
Resource Identification Initiative To cite this cell line use: AG28462 (RRID:CVCL_C7PE)
Comments Population: Mexican.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1483+27_1483+37del (c.1483+25del11) (g.2746del11); ClinVar=VCV002431799; Zygosity=Homozygous (Coriell=AG28462).
Disease Rothmund-Thomson syndrome (NCIt: C3335)
Rothmund-Thomson syndrome (ORDO: Orphanet_2909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_X816 (AG18371)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; AG28462
Encyclopedic resources Wikidata; Q123030658
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4