Cellosaurus logo
expasy logo

Cellosaurus FA50P-iPSC#1 (CVCL_B5M1)

[Text][XML][JSON]
Cell line name FA50P-iPSC#1
Accession CVCL_B5M1
Resource Identification Initiative To cite this cell line use: FA50P-iPSC#1 (RRID:CVCL_B5M1)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG) (p.Gly321_Trp322insTer); ClinVar=VCV000995825; Zygosity=Homozygous (PubMed=33512438).
  • Mutation; HGNC; HGNC:404; ALDH2; Simple; p.Glu504Lys (c.1510G>A) (p.Glu487Lys); ClinVar=VCV000018390; Zygosity=Heterozygous; Note=Allele ALDH2*2 (PubMed=33512438).
Disease AMeD syndrome (NCIt: C185246)
Aplastic anemia-intellectual disability-dwarfism syndrome (ORDO: Orphanet_611216)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5M0 (FA50P)
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=33512438; DOI=10.1182/blood.2020009111
An-Feng Mu, Asuka Hira, Akira Niwa, Mitsujiro Osawa, Kenichi Yoshida, Minako Mori, Yusuke Okamoto, Kazuko Inoue, Keita Kondo, Masato T. Kanemaki, Tomonari Matsuda ...Show all 19 authors... , Etsuro Ito, Seiji Kojima, Tatsutoshi Nakahata, Seishi Ogawa, Keigo Tanaka, Keitaro Matsuo, Megumu K. Saito, Minoru Takata; Show fewer authors
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Blood 137:2021-2032(2021)

Cross-references
Encyclopedic resources Wikidata; Q111733213
Entry history
Entry creation17-Mar-2022
Last entry update27-Nov-2025
Version number6