ID   FA50P
AC   CVCL_B5M0
SY   N0608
DR   JCRB; KURB1635
DR   Wikidata; Q111733212
RX   PubMed=33355142;
RX   PubMed=33512438;
CC   Population: Japanese.
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   Female
AG   19Y
CA   Finite cell line
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 5
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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).
//