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Cellosaurus FJMUUHi002-A (CVCL_D0EY)

[Text version]
Cell line name FJMUUHi002-A
Synonyms hiPS-RTT
Accession CVCL_D0EY
Resource Identification Initiative To cite this cell line use: FJMUUHi002-A (RRID:CVCL_D0EY)
Comments From: Fujian Medical University Union Hospital; Fuzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg133Cys (c.397C>T) (p.Arg145Cys, c.433C>T); ClinVar=VCV000011809; Zygosity=Heterozygous (PubMed=38100910).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=38100910; DOI=10.1016/j.scr.2023.103268
Guo Y., Li J.-Q., Xie W.-Y., Huang H.-P., Li J.-J., Lin W.-H., Lu Y.-Q.
Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p.R133C in MeCP2.
Stem Cell Res. 74:103268-103268(2024)

Cross-references
Cell line databases/resources hPSCreg; FJMUUHi002-A
Biological sample resources BioSamples; SAMEA113413704
Encyclopedic resources Wikidata; Q123031286
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4