ID   AP57P(SVT)
AC   CVCL_B5LZ
DR   JCRB; KURB1654
DR   Wikidata; Q111732932
CC   Population: Japanese.
CC   Sequence variation: 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).
CC   Sequence variation: Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG); Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: 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).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C185246; AMeD syndrome
DI   ORDO; Orphanet_611216; Aplastic anemia-intellectual disability-dwarfism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5LY ! AP57P
SX   Male
AG   13Y
CA   Transformed cell line
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 7
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