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Cellosaurus GM28891 (CVCL_D2ZH)

[Text version]
Cell line name GM28891
Synonyms GM28891*B
Accession CVCL_D2ZH
Resource Identification Initiative To cite this cell line use: GM28891 (RRID:CVCL_D2ZH)
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=GM28891).
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 Parent: CVCL_B0IB (GM28210)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28891
Encyclopedic resources Wikidata; Q127380935
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3