ID   GM22786
AC   CVCL_DN53
DR   Coriell; GM22786
DR   Wikidata; Q54852809
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:2186; COL11A1; Simple; c.3816+1G>A (IVS50+1G>A); ClinVar=VCV000039776; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM22786).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C128115; Marshall syndrome
DI   ORDO; Orphanet_560; Marshall syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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