ID   AP57P
AC   CVCL_B5LY
SY   N0614
DR   JCRB; KURB1653
DR   Wikidata; Q111732930
RX   PubMed=33355142;
RX   PubMed=33512438;
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 (PubMed=33355142).
CC   Sequence variation: Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG); Zygosity=Homozygous (PubMed=33355142).
CC   Sequence variation: Mutation; HGNC; HGNC:404; ALDH2; Simple; p.Glu504Lys (c.1510G>A) (p.Glu487Lys); ClinVar=VCV000018390; Zygosity=Heterozygous; Note=Allele ALDH2*2 (PubMed=33355142).
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)
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33355142; DOI=10.1126/sciadv.abd7197; PMCID=PMC11206199;
RA   Oka Y., Hamada M., Nakazawa Y., Muramatsu H., Okuno Y., Higasa K.,
RA   Shimada M., Takeshima H., Hanada K., Hirano T., Kawakita T.,
RA   Sakaguchi H., Ichimura T., Ozono S., Yuge K., Watanabe Y., Kotani Y.,
RA   Yamane M., Kasugai Y., Tanaka M., Suganami T., Nakada S.,
RA   Mitsutake N., Hara Y., Kato K., Mizuno S., Miyake N., Kawai Y.,
RA   Tokunaga K., Nagasaki M., Kito S., Isoyama K., Onodera M., Kaneko H.,
RA   Matsumoto N., Matsuda F., Matsuo K., Takahashi Y., Mashimo T.,
RA   Kojima S., Ogi T.;
RT   "Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and
RT   cause a multisystem disorder, AMeD syndrome.";
RL   Sci. Adv. 6:eabd7197.1-eabd7197.15(2020).
//
RX   PubMed=33512438; DOI=10.1182/blood.2020009111;
RA   Mu A.-F., Hira A., Niwa A., Osawa M., Yoshida K., Mori M., Okamoto Y.,
RA   Inoue K., Kondo K., Kanemaki M.T., Matsuda T., Ito E., Kojima S.,
RA   Nakahata T., Ogawa S., Tanaka K., Matsuo K., Saito M.K., Takata M.;
RT   "Analysis of disease model iPSCs derived from patients with a novel
RT   Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.";
RL   Blood 137:2021-2032(2021).
//