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Cellosaurus BMSGDDi-GM11272-J8 (CVCL_QX47)

[Text version]
Cell line name BMSGDDi-GM11272-J8
Synonyms GM11272-J8
Accession CVCL_QX47
Resource Identification Initiative To cite this cell line use: BMSGDDi-GM11272-J8 (RRID:CVCL_QX47)
Comments Population: Jewish.
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.Leu386Argfs*8 (c.1157_1188del32) (p.Leu398Argfs*8, c.1193_1224del32) (1155del32); ClinVar=VCV000143366; Zygosity=Unspecified (PubMed=28395743).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_4F14 (GM11272)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=28395743; DOI=10.1016/j.scr.2017.02.017
Hunihan L., Brown J., Cacace A., Fernandes A., Weston A.
Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett syndrome patient fibroblast line.
Stem Cell Res. 20:67-69(2017)

Cross-references
Encyclopedic resources Wikidata; Q54797655
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number12