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Cellosaurus GM27173 (CVCL_ZG16)

[Text version]
Cell line name GM27173
Synonyms GM27173*B
Accession CVCL_ZG16
Resource Identification Initiative To cite this cell line use: GM27173 (RRID:CVCL_ZG16)
Comments Population: Chinese.
Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6251; KCNH2; Simple_corrected; p.Ala422Thr (c.1264G>A); ClinVar=VCV000067174; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM27173).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1N94 ! GM25305
Sex of cell Female
Age at sampling 48Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27173
Encyclopedic resources Wikidata; Q98126383
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8