ID   GM29866
AC   CVCL_F1AF
DR   Coriell; GM29866
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:6842; MAP2K2; Simple; p.Glu207Lys (c.619G>A); ClinVar=VCV000040813; Zygosity=Heterozygous (Coriell=GM29866).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C222348; Cardiofaciocutaneous syndrome 4
DI   ORDO; Orphanet_1340; Cardiofaciocutaneous syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y2M
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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