ID   AP39P(SVT)
AC   CVCL_XD43
DR   JCRB; JCRB3067
DR   JCRB; KURB1643
DR   Wikidata; Q93325552
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.Ala278Pro (c.832G>C); ClinVar=VCV000995827; Zygosity=Heterozygous (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.
ST   Source(s): JCRB=JCRB3067
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 10,12
ST   D16S539: 10,12
ST   D5S818: 9,11
ST   D7S820: 9,10
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C185246; AMeD syndrome
DI   ORDO; Orphanet_611216; Aplastic anemia-intellectual disability-dwarfism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_XD42 ! AP39P
SX   Female
AG   10Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
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