ID   GM20000
AC   CVCL_E127
DR   CLO; CLO_0028368
DR   EFO; EFO_0005352
DR   Coriell; GM20000
DR   ENCODE; ENCBS223AAA
DR   GEO; GSM1008587
DR   Wikidata; Q54850776
WW   http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM20000_Crawford_protocol.pdf
CC   Part of: ENCODE project common cell types; tier 3.
CC   Sequence variation: Mutation; HGNC; 28862; NIPBL; Simple; p.Glu1908Ilefs*13 (c.5721_5725delTGAAA) (5721del5); Zygosity=Heterozygous (Coriell=GM20000).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75016; Cornelia de Lange syndrome
DI   ORDO; Orphanet_199; Cornelia de Lange syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 19
//