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Cellosaurus (CVCL_YJ77)

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Comments From: The Jackson Laboratory; Bar Harbor; USA.
Population: Caucasian; British.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:620; APP; Simple_edited; p.Ala673Thr (c.2017G>A); ClinVar=VCV000037145; Zygosity=Homozygous; Note=By CRISPR/Cas9 (JAX).
  • Mutation; HGNC; HGNC:18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
Species of origin Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5P3 (KOLF2.1J)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1