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Cellosaurus GM27270 (CVCL_XC52)

[Text version]
Cell line name GM27270
Synonyms GM27270*B
Accession CVCL_XC52
Resource Identification Initiative To cite this cell line use: GM27270 (RRID:CVCL_XC52)
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=GM27270).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_HQ53 (GM26038)
Sex of cell Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27270
Encyclopedic resources Wikidata; Q93933146
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10