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Cellosaurus GM27437 (CVCL_WP03)

[Text version]
Cell line name GM27437
Synonyms GM27437*B
Accession CVCL_WP03
Resource Identification Initiative To cite this cell line use: GM27437 (RRID:CVCL_WP03)
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 (Coriell=GM27437).
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
Cross-references
Cell line collections (Providers) Coriell; GM27437
Encyclopedic resources Wikidata; Q93933230
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10