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Cellosaurus GM29523 (CVCL_F0ZK)

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Cell line name GM29523
Synonyms GM29523*B
Accession CVCL_F0ZK
Resource Identification Initiative To cite this cell line use: GM29523 (RRID:CVCL_F0ZK)
Comments Population: Indian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8967; PIGN; Simple; c.1434_c.1434+1delGGinsAA; ClinVar=VCV000280280; Zygosity=Homozygous; Note=Causes abnormal splicing (Coriell=GM29523).
  • Mutation; HGNC; HGNC:10485; RYR3; Simple; p.Arg1521Ser (c.4562G>C); Zygosity=Heterozygous (Coriell=GM29523).
  • Mutation; HGNC; HGNC:10485; RYR3; Simple; p.Glu4130Ala (c.12389A>C); Zygosity=Heterozygous (Coriell=GM29523).
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 (NCIt: C176896)
Multiple congenital anomalies-hypotonia-seizures syndrome (ORDO: Orphanet_280633)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2VE (GM26113)
Sex of cell Male
Age at sampling 8M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29523
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1