ID   LOMARS pedigree sibling #1 LCL
AC   CVCL_D7EQ
RX   PubMed=33432339;
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Simple; c.4463+1G>A; ClinVar=VCV000225541; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33432339).
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Simple; p.Phe2717Leu (c.8151T>A) (p.Phe2719Leu, c.8157>A); ClinVar=VCV000225542; Zygosity=Heterozygous (PubMed=33432339).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Genome sequenced.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C210872; Lopes-Maciel-Rodan syndrome
DI   ORDO; Orphanet_528084; Non-specific syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=33432339; DOI=10.1093/hmg/ddaa283; PMCID=PMC8248964;
RA   Jung R., Lee Y., Barker D., Correia K., Shin B., Loupe J.,
RA   Collins R.L., Lucente D., Ruliera J., Gillis T., Mysore J.S.,
RA   Rodan L., Picker J., Lee J.-M., Howland D.S., Lee R., Kwak S.,
RA   MacDonald M.E., Gusella J.F., Seong I.S.;
RT   "Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin
RT   hypomorphs.";
RL   Hum. Mol. Genet. 30:135-148(2021).
//