Cellosaurus cell line AP57P(SVT) (CVCL

Cross-references
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.Leu188Profs4); ClinVar=VCV000995826; Zygosity=Heterozygous; Note=Splice donor mutation (from parent cell line). Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG) (p.Gly321_Trp322insTer); ClinVar=VCV000995825; 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 ALDH22 (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
Cell line collections (Providers)	JCRB; KURB1654
Encyclopedic resources	Wikidata; Q111732932
Entry history
Entry creation	17-Mar-2022
Last entry update	27-Nov-2025
Version number	8