ID   GM25515
AC   CVCL_HQ49
DR   Coriell; GM25515
DR   Wikidata; Q54854000
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; HGNC:29427; SH3TC2; Simple; p.Arg954Ter (c.2860C>T); ClinVar=VCV000002482; Zygosity=Unspecified (Coriell=GM25515).
CC   Sequence variation: Mutation; HGNC; HGNC:10994; SLC26A2; Simple; p.Arg279Trp (c.835C>T); ClinVar=VCV000004089; Zygosity=Unspecified (Coriell=GM25515).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129864; Charcot-Marie-Tooth disease type 4C
DI   NCIt; C156311; Diastrophic dysplasia
DI   ORDO; Orphanet_99949; Charcot-Marie-Tooth disease type 4C
DI   ORDO; Orphanet_628; Diastrophic dwarfism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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