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Cellosaurus FDCHi010-A (CVCL_D0EV)

[Text version]
Cell line name FDCHi010-A
Synonyms iPSCx-y-AHDC1-m
Accession CVCL_D0EV
Resource Identification Initiative To cite this cell line use: FDCHi010-A (RRID:CVCL_D0EV)
Comments From: Children's Hospital of Fudan University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 25230; AHDC1; Simple; p.Arg688Ter (c.2062C>T); ClinVar=VCV000438276; Zygosity=Heterozygous (PubMed=37216737).
Disease Xia-Gibbs syndrome (NCIt: C192092)
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORDO: Orphanet_412069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y2M
Category Induced pluripotent stem cell
Publications

PubMed=37216737; DOI=10.1016/j.scr.2023.103118
Yin T.-T., Wu B.-B., Peng T., Liao Y.-F., Jiao S.-Y., Wang H.-J.
Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C>T).
Stem Cell Res. 69:103118-103118(2023)

Cross-references
Cell line databases/resources hPSCreg; FDCHi010-A
Biological sample resources BioSamples; SAMEA112938947
Encyclopedic resources Wikidata; Q123031269
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2