ID   RS2-62P
AC   CVCL_A3YU
DR   SKIP; SKIP005455
DR   Wikidata; Q105510797
RX   PubMed=26012557;
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=26012557).
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)
HI   CVCL_A3YX ! RS2 fibroblast
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=26012557; DOI=10.1186/s13041-015-0121-2; PMCID=PMC4446051;
RA   Andoh-Noda T., Akamatsu W., Miyake K., Matsumoto T., Yamaguchi R.,
RA   Sanosaka T., Okada Y., Kobayashi T., Ohyama M., Nakashima K.,
RA   Kurosawa H., Kubota T., Okano H.;
RT   "Differentiation of multipotent neural stem cells derived from Rett
RT   syndrome patients is biased toward the astrocytic lineage.";
RL   Mol. Brain 8:31.1-31.11(2015).
//