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Cellosaurus KCMC-1694 (CVCL_4W61)

Cell line name KCMC-1694
Accession CVCL_4W61
Resource Identification Initiative To cite this cell line use: KCMC-1694 (RRID:CVCL_4W61)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6770; SMAD4; Simple; p.Ile500Thr (c.1499T>C); ClinVar=VCV000030149; Zygosity=Unspecified (JCRB=JCRB1540).
Disease Myhre syndrome (NCIt: C123815)
Myhre syndrome (ORDO: Orphanet_2588)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Finite cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX
CSF1PO9,12
D5S81810
D7S82011,12
D13S31712
D16S53911,12
TH017,9
TPOX8
vWA14

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Cross-references
Cell line collections (Providers) JCRB; JCRB1540
Encyclopedic resources Wikidata; Q54899698
Entry history
Entry creation14-Dec-2015
Last entry update29-Jun-2023
Version number11