ID   GM29787
AC   CVCL_F0YI
SY   GM29787*B
DR   Coriell; GM29787
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:19082; NALCN; Simple; p.Asp600His (c.1798G>C); Zygosity=Heterozygous (Coriell=GM29787).
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)
HI   CVCL_F0YJ ! GM29788
SX   Female
AG   10M
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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