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Cellosaurus AP57P(SVT) (CVCL_B5LZ)

[Text version]
Cell line name AP57P(SVT)
Accession CVCL_B5LZ
Resource Identification Initiative To cite this cell line use: AP57P(SVT) (RRID:CVCL_B5LZ)
Comments Population: Japanese.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:253; ADH5; Simple; c.564+1G>A (p.Leu188Profs*4); ClinVar=VCV000995826; Zygosity=Heterozygous; Note=Splice donor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG); Zygosity=Homozygous (from parent cell line).
  • Mutation; HGNC; HGNC:404; ALDH2; Simple; p.Glu504Lys (c.1510G>A) (p.Glu487Lys); ClinVar=VCV000018390; Zygosity=Heterozygous; Note=Allele ALDH2*2 (from parent cell line).
Disease AMeD syndrome (NCIt: C185246)
Aplastic anemia-intellectual disability-dwarfism syndrome (ORDO: Orphanet_611216)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5LY (AP57P)
Sex of cell Male
Age at sampling 13Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) JCRB; KURB1654
Encyclopedic resources Wikidata; Q111732932
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number7