Cellosaurus logo
expasy logo

Cellosaurus GM26038 (CVCL_HQ53)

[Text version]
Cell line name GM26038
Accession CVCL_HQ53
Resource Identification Initiative To cite this cell line use: GM26038 (RRID:CVCL_HQ53)
Comments Population: Caucasian.
Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg174Ter (c.520C>T); ClinVar=VCV000235853; Zygosity=Heterozygous (Coriell=GM26038).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_XC52 (GM27270)
Originate from same individual CVCL_HQ52 ! GM26037
Sex of cell Male
Age at sampling 11Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26038
Encyclopedic resources Wikidata; Q54854065
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13