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Cellosaurus BRCi024-A (CVCL_D6S1)

[Text version]
Cell line name BRCi024-A
Synonyms HiPS-RTT_CUH01
Accession CVCL_D6S1
Resource Identification Initiative To cite this cell line use: BRCi024-A (RRID:CVCL_D6S1)
Comments From: RIKEN BioResource Research Center; Kyoto; Japan.
Population: Japanese.
Caution: Mutation indicated as p.Gly143fs (c.471delG) in paper (PubMed=38703668).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gly269Alafs*20 (c.806delG) (p.Gly281Alafs*20, c.842delG) (V288X); ClinVar=VCV000095202; Zygosity=Heterozygous (PubMed=38703668).
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 10Y
Category Induced pluripotent stem cell
Publications

PubMed=38703668; DOI=10.1016/j.scr.2024.103432
Mori M., Yoshii S., Noguchi M., Takagi D., Shimizu T., Ito H., Matsuo-Takasaki M., Nakamura Y., Takahashi S., Hamada H., Ohnuma K., Shiohama T., Hayashi Y.
Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations.
Stem Cell Res. 77:103432-103432(2024)

Cross-references
Cell line databases/resources hPSCreg; BRCi024-A
Biological sample resources BioSamples; SAMEA115396857
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2