Cellosaurus logo
expasy logo

Cellosaurus AP39P-iPSC#1 (CVCL_B5M2)

[Text version]
Cell line name AP39P-iPSC#1
Accession CVCL_B5M2
Resource Identification Initiative To cite this cell line use: AP39P-iPSC#1 (RRID:CVCL_B5M2)
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; c.564+1G>A (p.Leu188Profs*4); ClinVar=VCV000995826; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33512438).
  • Mutation; HGNC; HGNC:253; ADH5; Simple; p.Ala278Pro (c.832G>C); ClinVar=VCV000995827; Zygosity=Heterozygous (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_XD42 (AP39P)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=33512438; DOI=10.1182/blood.2020009111
Mu A.-F., Hira A., Niwa A., Osawa M., Yoshida K., Mori M., Okamoto Y., Inoue K., Kondo K., Kanemaki M.T., Matsuda T., Ito E., Kojima S., Nakahata T., Ogawa S., Tanaka K., Matsuo K., Saito M.K., Takata M.
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; Q111732927
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5