ID   GM29259
AC   CVCL_D6WX
DR   Coriell; GM29259
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8514; CLDN11; Simple; p.Gly172fs (c.515del); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29259).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C201587; Hypomyelinating leukodystrophy-22
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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