ID   GM29788
AC   CVCL_F0YJ
DR   Coriell; GM29788
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:19082; NALCN; Simple; p.Asp600His (c.1798G>C); Zygosity=Heterozygous (Coriell=GM29788).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C222353; CLIFAHDD syndrome
DI   ORDO; Orphanet_562528; Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
CH   CVCL_F0YI ! GM29787
//