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Cellosaurus FMUPDCi001-A (CVCL_B7E1)

[Text version]
Cell line name FMUPDCi001-A
Synonyms ADAT3c.219dupA/c.587C>T iPSC
Accession CVCL_B7E1
Resource Identification Initiative To cite this cell line use: FMUPDCi001-A (RRID:CVCL_B7E1)
Comments From: Fetal Medicine unit and Prenatal Diagnosis Center, Shanghai 1st Maternity and Infant Hospital of Tongji University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 25151; ADAT3; Simple; p.Arg58Thrfs (c.171dupA) (p.Arg74Thrfs, c.219dupA); dbSNP=rs1267546394; Zygosity=Heterozygous (PubMed=35405382).
  • Mutation; HGNC; 25151; ADAT3; Simple; p.Ala180Val (c.539C>T) (p.Ala196Val, c.587C>T); Zygosity=Heterozygous (PubMed=35405382).
Disease Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NCIt: C186789)
Intellectual disability-strabismus syndrome (ORDO: Orphanet_363528)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=35405382; DOI=10.1016/j.scr.2022.102777
Hu X.-Y., Xiong S.-Y., Zhou X.-Y., Sun L.-M.
Generation of a human induced pluripotent stem cell line FMUPDCi001-A from a patient with mental retardation, autosomal recessive 36 (MRT36) carrying the variants c.219dupA and c.587C > T in ADAT3.
Stem Cell Res. 61:102777-102777(2022)

Cross-references
Cell line databases/resources hPSCreg; FMUPDCi001-A
Biological sample resources BioSamples; SAMEA11423628
Encyclopedic resources Wikidata; Q112929568
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4