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Cellosaurus GM29104 (CVCL_D3AI)

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Cell line name GM29104
Synonyms GM29104*B
Accession CVCL_D3AI
Resource Identification Initiative To cite this cell line use: GM29104 (RRID:CVCL_D3AI)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:603; APOB; Simple; p.Arg3527Gln (C.10580G>A); ClinVar=VCV000017890; Zygosity=Heterozygous (Coriell=GM29104).
  • Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ile698Metfs*5 (c.2094delT); ClinVar=VCV002672076; Zygosity=Heterozygous (Coriell=GM29104).
Disease Intellectual developmental disorder, autosomal dominant 40 (NCIt: C163754)
Hypercholesterolemia, familial, 2 (NCIt: C176014)
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome (ORDO: Orphanet_692193)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29104
Encyclopedic resources Wikidata; Q127380950
Entry history
Entry creation30-Jan-2024
Last entry update31-Mar-2026
Version number5