ID   KCMC-1694
AC   CVCL_4W61
DR   JCRB; JCRB1540
DR   Wikidata; Q54899698
CC   Sequence variation: Mutation; HGNC; HGNC:6770; SMAD4; Simple; p.Ile500Thr (c.1499T>C); ClinVar=VCV000030149; Zygosity=Unspecified (JCRB=JCRB1540).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB1540
ST   Amelogenin: X
ST   CSF1PO: 9,12
ST   D13S317: 12
ST   D16S539: 11,12
ST   D5S818: 10
ST   D7S820: 11,12
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 14
DI   NCIt; C123815; Myhre syndrome
DI   ORDO; Orphanet_2588; Myhre syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
//