ID   RS2 fibroblast
AC   CVCL_A3YX
DR   GEO; GSM1057285
DR   Wikidata; Q105510792
RX   PubMed=23805272;
CC   Population: Japanese.
CC   Sequence variation: 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).
CC   Omics: Genomics; DNA methylation analysis.
CC   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.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75488; Rett syndrome
DI   ORDO; Orphanet_778; Rett syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 10-04-25; Version: 8
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RX   PubMed=23805272; DOI=10.1371/journal.pone.0066729; PMCID=PMC3689680;
RA   Miyake K., Yang C.-S., Minakuchi Y., Ohori K., Soutome M., Hirasawa T.,
RA   Kazuki Y., Adachi N., Suzuki S., Itoh M., Goto Y.-i., Andoh T.,
RA   Kurosawa H., Oshimura M., Sasaki M., Toyoda A., Kubota T.;
RT   "Comparison of genomic and epigenomic expression in monozygotic twins
RT   discordant for Rett syndrome.";
RL   PLoS ONE 8:e66729.1-e66729.9(2013).
//