ID   GM28350
AC   CVCL_C0LQ
DR   Coriell; GM28350
DR   Wikidata; Q112929602
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:17300; TAF8; Simple; p.Thr240Argfs*7 (c.719_720delAC); ClinVar=VCV001686246; Zygosity=Heterozygous (Coriell=GM28350).
CC   Sequence variation: Mutation; HGNC; HGNC:17300; TAF8; Simple; p.Asn269Thrfs*29 (c.806_809delACAC); ClinVar=VCV001686247; Zygosity=Heterozygous (Coriell=GM28350).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C192636; Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 7
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