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Cellosaurus GM25344 (CVCL_BX28)

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Cell line name GM25344
Accession CVCL_BX28
Resource Identification Initiative To cite this cell line use: GM25344 (RRID:CVCL_BX28)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (Coriell=GM25344).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (Coriell=GM25344).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (Coriell=GM25344).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_XC50 (GM27381)CVCL_UL08 (TRNDi002-A)CVCL_UL09 (TRNDi002-B)
CVCL_UL10 (TRNDi002-C)CVCL_UL11 (TRNDi002-D)
Originate from same individual CVCL_BX22 ! GM25330
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25344
Encyclopedic resources Wikidata; Q54853882
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14