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Cellosaurus RS2-65M (CVCL_A3YV)

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Cell line name RS2-65M
Accession CVCL_A3YV
Resource Identification Initiative To cite this cell line use: RS2-65M (RRID:CVCL_A3YV)
Comments Population: Japanese.
Characteristics: Due to X chromosome inactivation does not express the mutated allele.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Gly269Alafs*20 (c.806delG) (p.Gly281Alafs*20, c.842delG) (V288X); ClinVar=VCV000095202; Zygosity=Heterozygous; Note=De novo mutation (PubMed=26012557).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A3YX (RS2 fibroblast)
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=26012557; DOI=10.1186/s13041-015-0121-2; PMCID=PMC4446051
Tomoko Andoh-Noda, Wado Akamatsu, Kunio Miyake, Takuya Matsumoto, Ryo Yamaguchi, Tsukasa Sanosaka, Yohei Okada, Tetsuro Kobayashi, Manabu Ohyama, Kinichi Nakashima, Hiroshi Kurosawa ...Show all 13 authors... , Takeo Kubota, Hideyuki Okano; Show fewer authors
Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage.
Mol. Brain 8:31.1-31.11(2015)

Cross-references
Cell line databases/resources SKIP; SKIP005454
Encyclopedic resources Wikidata; Q105510800
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6