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Cellosaurus RS1-52M (CVCL_A3YS)

[Text version]
Cell line name RS1-52M
Accession CVCL_A3YS
Resource Identification Initiative To cite this cell line use: RS1-52M (RRID:CVCL_A3YS)
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_A3YW (RS1 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
Andoh-Noda T., Akamatsu W., Miyake K., Matsumoto T., Yamaguchi R., Sanosaka T., Okada Y., Kobayashi T., Ohyama M., Nakashima K., Kurosawa H., Kubota T., Okano H.
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; SKIP005452
Encyclopedic resources Wikidata; Q105510784
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6