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Cellosaurus BRCi026-A (CVCL_D6S3)

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Cell line name BRCi026-A
Synonyms HiPS-RTT_CUH05
Accession CVCL_D6S3
Resource Identification Initiative To cite this cell line use: BRCi026-A (RRID:CVCL_D6S3)
Comments From: RIKEN BioResource Research Center; Kyoto; Japan.
Population: Japanese.
Caution: Mutation indicated as p.Arg180Cys (c.580C>T) in paper (PubMed=38703668).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Arg306Cys (c.916C>T) (p.Arg318Cys, c.952C>T); ClinVar=VCV000011824; 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 8Y
Category Induced pluripotent stem cell
Publications

PubMed=38703668; DOI=10.1016/j.scr.2024.103432
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma ...Show all 13 authors... , Tadashi Shiohama, Yohei Hayashi; Show fewer authors
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; BRCi026-A
Biological sample resources BioSamples; SAMEA115411044
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2