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Cellosaurus CHARGE1-13 (CVCL_Y954)

[Text version]
Cell line name CHARGE1-13
Synonyms CH1#13; HPS0093
Accession CVCL_Y954
Resource Identification Initiative To cite this cell line use: CHARGE1-13 (RRID:CVCL_Y954)
Comments From: Keio University School of Medicine; Tokyo; Japan.
Population: Japanese.
Miscellaneous: Cell line information from personal communication of Okuno, Hironobu.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Gln1391fs*13 (c.4171delC); Zygosity=Heterozygous (Direct_author_submission).
Disease CHARGE syndrome (NCIt: C75100)
CHARGE syndrome (ORDO: Orphanet_138)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_LJ32 ! CHARGE1-7
CVCL_LJ31 ! CHARGE1-11
CVCL_Y955 ! CHARGE1-20
CVCL_Y956 ! CHARGE1-25
Sex of cell Male
Age at sampling 10-11Y
Category Induced pluripotent stem cell
Cross-references
Encyclopedic resources Wikidata; Q54811728
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number12