ID   PV014
AC   CVCL_B4GQ
DR   Wikidata; Q110433141
RX   CelloPub=CLPUB00671;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Thr238Ter (c.712_713delAC) (T237X); Zygosity=Heterozygous (CelloPub=CLPUB00671).
CC   Sequence variation: Mutation; HGNC; 23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671).
CC   Genetic integration: Method=Transduction; Gene=HGNC; 11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7.
CC   Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C183525; Methylmalonic aciduria and homocystinuria, cblF type
DI   ORDO; Orphanet_79284; Methylmalonic acidemia with homocystinuria type cblF
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B4F0 ! WG3377
SX   Male
AG   Children
CA   Transformed cell line
DT   Created: 16-12-21; Last updated: 10-09-24; Version: 6
//
RX   CelloPub=CLPUB00671;
RA   Miousse I.R.;
RT   "Investigations into the early steps of cobalamin metabolism.";
RL   Thesis PhD (2011); McGill University Montreal; Montreal; Canada.
//