Cellosaurus logo
expasy logo

Cellosaurus RS2 fibroblast (CVCL_A3YX)

[Text][XML][JSON]
Cell line name RS2 fibroblast
Accession CVCL_A3YX
Resource Identification Initiative To cite this cell line use: RS2 fibroblast (RRID:CVCL_A3YX)
Comments Population: Japanese.
Omics: Genomics; DNA methylation analysis.
Donor information: Established from monozygotic twin of RS1 fibroblast (Cellosaurus=CVCL_A3YW). The donor of RS1 suffers from typical Rett syndrome while the donor of RS2 suffers from an atypical form of Rett syndrome.
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=23805272).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A3YU (RS2-62P)CVCL_A3YV (RS2-65M)
Sex of cell Female
Age at sampling 10Y
Category Finite cell line
Publications

PubMed=23805272; DOI=10.1371/journal.pone.0066729; PMCID=PMC3689680
Kunio Miyake, Chun-Shu Yang, Yohei Minakuchi, Kenta Ohori, Masaki Soutome, Takae Hirasawa, Yasuhiro Kazuki, Noboru Adachi, Seiko Suzuki, Masayuki Itoh, Yu-ichi Goto ...Show all 17 authors... , Tomoko Andoh, Hiroshi Kurosawa, Mitsuo Oshimura, Masayuki Sasaki, Atsushi Toyoda, Takeo Kubota; Show fewer authors
Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome.
PLoS ONE 8:e66729.1-e66729.9(2013)

Cross-references
Encyclopedic resources Wikidata; Q105510792
Gene expression databases GEO; GSM1057285
Entry history
Entry creation12-Jan-2021
Last entry update10-Apr-2025
Version number8