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Cellosaurus GM28210 (CVCL_B0IB)

[Text version]
Cell line name GM28210
Accession CVCL_B0IB
Resource Identification Initiative To cite this cell line use: GM28210 (RRID:CVCL_B0IB)
Comments Population: Bangladeshi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous (Coriell=GM28210).
Disease Schuurs-Hoeijmakers syndrome (NCIt: C150555)
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome (ORDO: Orphanet_329224)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D2ZH (GM28891)
Originate from same individual CVCL_B0IA ! GM28206
CVCL_D6Y3 ! GM28584
Sex of cell Female
Age at sampling 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28210
Encyclopedic resources Wikidata; Q108820314
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number8