ID   FA50P-iPSC#1
AC   CVCL_B5M1
DR   Wikidata; Q111733213
RX   PubMed=33512438;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG); Zygosity=Homozygous (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_B5M0 ! FA50P
SX   Female
AG   19Y
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).
//