ID   AP39P-iPSC#2
AC   CVCL_B5M4
DR   Wikidata; Q111732929
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=33512438).
CC   Sequence variation: Mutation; HGNC; HGNC:253; ADH5; Simple; p.Ala278Pro (c.832G>C); ClinVar=VCV000995827; Zygosity=Heterozygous (PubMed=33512438).
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=33512438).
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_XD42 ! AP39P
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 5
//
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).
//