Cellosaurus logo
expasy logo

Cellosaurus GM29271 (CVCL_D6WW)

[Text version]
Cell line name GM29271
Synonyms GM29271*C
Accession CVCL_D6WW
Resource Identification Initiative To cite this cell line use: GM29271 (RRID:CVCL_D6WW)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6884; MAPK8IP3; Simple; p.Arg578Cys (c.1732C>T) (p.Arg579Cys, c.1735C>T); ClinVar=VCV000632564; Zygosity=Unspecified (Coriell=GM29270).
Disease Neurodevelopmental disorder with or without variable brain abnormalities (NCIt: C206532)
Non-specific syndromic intellectual disability (ORDO: Orphanet_528084)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29271
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2