ID   BIHi002-A
AC   CVCL_UM44
DR   BioSamples; SAMEA5573666
DR   hPSCreg; BIHi002-A
RX   PubMed=30763735;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Sequence variation: Heterozygous for CLCN7 p.Gly292Glu (c.875G>A) and p.Arg403Gln (c.1208G>A) (PubMed=30763735).
DI   NCIt; C129733; Autosomal recessive osteopetrosis
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_UM45 ! BIHi002-B
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 25-02-19; Version: 1
//
RX   PubMed=30763735; DOI=10.1016/j.scr.2018.101367;
RA   Hennig A.F., Rossler U., Boiti F., von der Hagen M., Gossen M.,
RA   Kornak U., Stachelscheid H.;
RT   "Generation of a human induced pluripotent stem cell line (BIHi002-A)
RT   from a patient with CLCN7-related infantile malignant autosomal
RT   recessive osteopetrosis.";
RL   Stem Cell Res. 35:101367-101367(2019).
//