ID   GM29216
AC   CVCL_F0YN
SY   GM29216*C
DR   Coriell; GM29216
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Unexplicit; Ex5-9del; Zygosity=Heterozygous (Coriell=GM29216).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123438; Ullrich congenital muscular dystrophy
DI   ORDO; Orphanet_75840; Congenital muscular dystrophy, Ullrich type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D2Z9 ! GM26069
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//